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  • RRID:SCR_005151

http://www.nature.com/naturejobs/science/

Search for the widest range of science jobs with thousands of vacancies advertised globally on the site. Employers range from top international pharmaceutical and biotechnology companies to highly respected academic and government institutions. Job seekers can find a wide range of scientific career information and news as well as expert advice, all free to access. What''s more, employers can post jobs for free.

Proper citation: Naturejobs (RRID:SCR_005151) Copy   


  • RRID:SCR_005292

    This resource has 10+ mentions.

http://phenotype.mc.vanderbilt.edu/

Collaborative environment of building and validating electronic phenotype algorithms using electronic medical records (EMRs) and natural language processing (NLP) for use in genome-wide association studies (GWAS). On this site you can: View existing algorithms, Enter or create new algorithms, Collaborate with others to create or review algorithms, View implementation details for existing algorithms. The Electronic Medical Records and Genomics Network (eMERGE) has investigated whether data captured through routine clinical care using electronic medical records (EMRs) can identify disease phenotypes with sufficient positive and negative predictive values for use in genome-wide association studies (GWAS). Most EMRs captured key information (diagnoses, medications, laboratory tests) used to define phenotypes in a structured format; in addition, natural language processing has also been shown to improve case identification rates. PheKB is an outgrowth of that validation effort. Phenotype algorithms can be viewed by data modalities or methods used: CPT codes, ICD 10 codes, ICD 9 codes, Laboratories, Medications, Vital Signs, Natural Language Processing Algorithms can also be viewed by: * Implementation results (positive predictive value, sensitivity, publications) * Institution * Work Group

Proper citation: PheKB (RRID:SCR_005292) Copy   


http://www.massgeneral.org/children/services/treatmentprograms.aspx?id=1614

The Lurie Center for Autism is a highly successful program designed to evaluate and treat children and adults with a wide variety of developmental and handicapping conditions. Our mission is to provide the highest quality clinical, social and support services to those diagnosed with autism, pervasive developmental disorders and other developmental disabilities. The Lurie Center for Autism is unique because of the population it serves and because it uses a multidisciplinary approach that begins with comprehensive medical evaluations and extends to supporting the well-being of patients and families. Nurses, social workers, speech pathologists, occupational therapists, physical therapists, neuro-psychologists, special education professionals and family members are involved in the treatment processes in addition to physicians. Each has a depth of expertise in his/her respective field. The team, as a unit, plays an integral role in the continuum of care for individuals diagnosed with developmental disabilities. Our services and therapies include: * Extensive diagnostic evaluations * Medical, cognitive and behavioral interventions including speech and language * Speech therapy, occupational therapy, occupational with sensory integration therapy and physical therapy; psychological evaluation and counseling; * Parent skills training and family empowerment * Referral support for additional medical and educational resources at locations near each patient''s home and throughout the New England region The Lurie Center for Autism is committed to improving the medical, social and psychological well-being of children, adolescents, adults and families. To this end, our goals and objectives are to: * Provide a stable, consistent and structured environment within a medical context * Provide opportunities for each individual to achieve * Develop self control, social skills and self esteem in each individual * Support and educate families in order to transfer the learned skills to home, school, work and community environments * Provide teaching to physicians and professionals in training and to pursue research related to the treatment and causes of autism, pervasive developmental disorders and other devlopmental disorders of the central nervous system

Proper citation: Lurie Center for Autism (RRID:SCR_005456) Copy   


http://caps.ucsf.edu/

Established in 1986, the Center for AIDS Prevention Studies (CAPS) at the University California, San Francisco (UCSF) is the world''s largest research center dedicated to social, behavioral, and policy science approaches to HIV. The mission of the CAPS is to conduct research to prevent new HIV infections, improve health outcomes among those infected, and reduce disparities. This is how we do it: * CAPS provides core support for multidisciplinary and high-impact HIV research, enhances the excellence of research projects, trains a new generation of HIV scientists, and assists implementing partners. * Our Administrative Core provides strong leadership and management to stimulate innovative research and ensure scientific rigor and sound fiscal operations. * Our Developmental Core fosters innovative, high-impact, multidisciplinary HIV research by providing funds for innovative pilot work, sponsoring training and education, and ensuring the scientific excellence of research. * Our Methods Core provides comprehensive methodological training and consultation in research design, qualitative and quantitative analysis, and state-of-the-art data collection and management. * Our Policy and Ethics Core stimulates and supports policy-relevant research, identifies and analyzes the policy and ethics implications of research, and ensures the highest ethical conduct of research. * Our Technology and Information Exchange (Domestic Response) Core responds to the domestic epidemic by disseminating information, fostering community collaborative research, providing technical assistance and capacity-building to community-based organizations, and learning from community expertise. * Our Global Response Core responds to the global epidemic by fostering collaborative research with scientists in developing countries, completing and disseminating Cochrane Collaborative scientific reviews, and providing technical assistance, capacity building, and an evidence base to implementing partners.

Proper citation: UCSF Center for AIDS Prevention Studies (CAPS) (RRID:SCR_005647) Copy   


  • RRID:SCR_000168

    This resource has 1+ mentions.

http://sourceforge.net/projects/biogrinder/

An open-source bioinformatic tool to create simulated omic shotgun and amplicon sequence libraries for all main sequencing platforms. The tool is available through multiple interfaces like GUI, CLI and API. It is useful for simulating clinical or environmental microbial communities and complements the use of in vitro mock communities.

Proper citation: Grinder (RRID:SCR_000168) Copy   


http://www.globalhealthlibrary.net/php/index.php

The Global Health Library assembles health data, readable in many languages. The GHL aims to: * point to reliable information collections and systems, in which different users and user groups (ministries of health, policy makers, health workers, information providers, patients and their families, general public) can focus on the knowledge that best meets their health information needs; * act as a facilitator enabling access to information contents produced by numerous key providers - be they commercial companies, government institutions, civil society, not-for-profit organizations, and regional or international bodies; and * strive for universality, with focus on developing countries, and will act as a resource locator for print materials essential to areas that do not have access to electronic content.

Proper citation: World Health Organization: The Global Health Library (RRID:SCR_000391) Copy   


  • RRID:SCR_001462

    This resource has 50+ mentions.

https://med.inria.fr/

Software tool as multi platform medical image processing and visualization software. Functionalities include 2D/3D/4D image visualization, image registration, diffusion MR processing and tractography, filtering.

Proper citation: medInria (RRID:SCR_001462) Copy   


https://repository.niddk.nih.gov/network/110

Network that brings together clinical centers with expertise in caring for patients with chronic hepatitis B virus (HBV) infection to conduct research in order to better understand the physiological effects of the disease and develop effective treatment strategies with the currently available therapies. The web site is designed to inform the public of the research activities conducted by the Hepatitis B Research Network. It is also a portal to support communications for their researchers and participants in their studies. The Hepatitis B Research Network is currently seeking patients for a multi-center prospective study of the natural history of chronic hepatitis B. Within the next few months treatment trials for various patients with chronic hepatitis B will also begin enrolling patients. Details of the entry criteria for these studies can be obtained from the clinical centers outlined on the website's map.

Proper citation: Hepatitis B Research Network (RRID:SCR_001531) Copy   


http://www.neuroanatomy.wisc.edu/

Training materials including Web edition modules of the neuroanatomy coursebooks used by first-year medical students at the University of Wisconsin Medical School (UWMS), videos, and images. Topics include spinal cord, brain stem, Cerebellum, Thalamus, Cranial Nerves and National Board Review practice questions.

Proper citation: UW-Madison Neuroscience Resources (RRID:SCR_001649) Copy   


http://bioinformatics.aecom.yu.edu/index.htm

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on January 6, 2023. Primary informatics resource for joint research efforts of the Albert Einstein College of Medicine and Montefiore Medical Center to facilitate the study and understanding of biological processes, clinical disorders, pathologic abnormalities, and the relationships among them, using a wide variety of informatics techniques, applications, and user training. Their services include: * Collaboration on research design to enable effective data management throughout all phases of a project * Provision of management capability for large volumes of data generated by microarrays and related technologies * Provision and supports a software toolchest for data capture, retrieval, and analysis * Design and implementation of custom interfaces to incorporate existing or separately designed databases into the central data management architecture * Support for data management for the Biorepository, to enhance specimen storage, identification, and linkage with clinical data * Ensuring conformity of data elements and structures to national standards via participation in standards organizations, facilitating intramural and extramural collaboration * Providing individualized support to end-users with bioinformatics training needs * Serving as a bioinformatics liaison to other research institutes and organizations * Providing data management support for clinical research * Providing a common, secure repository for clinical, experimental, and biosample storage data

Proper citation: Einstein-Montefiore ICTR Research Informatics Core (RRID:SCR_003451) Copy   


http://psychiatry.ucsd.edu/index.html

The Department of Psychiatry at the University of California, San Diego is one of the most innovative and productive academic departments of psychiatry in the country. The guiding principle in this development has been that the educational and research programs of a psychiatry department must be at the cutting edge and encompass and integrate the most current innovations in the field with those approaches from the past which have proven to be valid and effective. The department has a strong commitment to the dynamic understanding of an individual's current social context and feelings, and past behaviors and experiences. We believe we have created one of the best available integrations of the biopsychosocial approaches to understanding normal and abnormal human behavior. By design, a rich diversity of scientific and clinical strategies are represented within the department, but the core organizing ethic of our educational and training programs is a profound commitment to our patients well being. It is the department's conviction that clinical psychiatry can only be learned in the context of meaningful interaction and contact with patients. The Residency Training Program is developmental in nature, appropriately challenging the residents at each level as they move from intensively supervised beginners to autonomous, confident, skilled clinicians and colleagues at graduation. The training occurs within the department's ambiance of collegiality, enthusiasm, openness of communication, intellectual and scientific rigor, and spirit of inquiry, which characterize our highly productive and energetic faculty. The UCSD faculty represent a virtual who's who of world-class basic and clinical scientists and clinicians, all of whom are available and participate in our residents training and experiences. The tradition at UCSD, both on the general campus and within the School of Medicine, is that of academic excellence. The department shares in this tradition and expects it from its faculty, trainees, and students. The goal of the residency program is to develop highly competent psychiatric physicians and leaders who are comprehensively trained in the most up-to-date diagnostic and treatment techniques which have proven effective for the full spectrum of mental disorders.

Proper citation: University of California at San Diego Department of Psychiatry (RRID:SCR_001931) Copy   


http://hivdb.stanford.edu/

The Stanford University HIV Drug Resistance Database is a curated public database designed to represent, store, and analyze the different forms of data underlying HIVs drug resistance. HIVDB has three main types of content: (1) Database queries and references, (2) Interactive programs, and (3) Educational resources. Database queries are designed primarily for researchers studying HIV drug resistance. The interactive programs and educational resources are designed for both researchers and those wishing to learn more about HIV drug resistance. 1.DATABASE QUERY AND REFERENCE PAGES Genotype-Treatment Correlations This Genotype-Treatment section of the database links to 15 interactive query pages that explore the relationship between treatment with HIV-1 antiretroviral drugs (ARVs) and mutations in HIV reverse transcriptase (RT), protease, and integrase. There are five types of interactive query pages: Treatment Profiles (Protease and RT inhibitors) Mutation Profiles (Protease and RT mutations) Detailed Treatment Queries (Protease, RT, and integrase inhibitors) Detailed Mutation Queries (Protease, RT, and integrase mutations) Mutation Prevalence According to Subtype and Treatment Genotype-Phenotype Correlations The main page of the Genotype-Phenotype Correlations section links to four interactive query pages: three dynamically updated data summaries and one regularly updated downloadable dataset. Drug Resistance Positions Query for levels of resistance associated with known drug resistance mutations Detailed Phenotype Queries Queries for levels of resistance associated with individual mutations or mutation combinations at all positions of protease, RT, and integrase Patterns of Drug Resistance Mutations Downloadable Reference Dataset Genotype-Clinical Correlations This part of the database has two main sections: Clinical Trials Datasets Summaries of Clinical Studies References This part of the database has two main sections: one with summaries of the data from each of the references in HIVDB and one in which every primate immunodeficiency virus sequence in GenBank is annotated according to its presence or absence in HIVDB. Studies in HIVDB GenBank <=> HIVDB New Submissions Approximately every three months, the New Submissions section lists the studies that have been entered into HIVDB. The study title links to the introductory page of the study in the References section. Database Statistics (http://hivdb.stanford.edu/pages/HIVdbStatistics.html) 2. INTERACTIVE PROGRAMS HIVDB has seven main interactive programs. 1. HIVdb Program Mutation List Analysis Sequence Analysis HIVdb Output Sierra Web Service Release Notes Algorithm Specification Interface (ASI) 2. HIValg Program 3. HIVseq Program 4. Calibrated Population Resistance (CPR) tool 5. Mutation ARV Evidence Listing (MARVEL) 6. ART-AiDE 7. Rega HIV-1 Subtyping tool Three programs in the HIV Drug Resistance Database share a common code base: HIVseq, HIVdb, and HIValg. HIVseq accepts user-submitted protease, RT, and integrase sequences, compares them to the consensus subtype B reference sequence, and uses the differences as query parameters for interrogating the HIV Drug Resistance database (Shafer, D Jung, & B Betts, Nat Med 2000; Rhee SY et al. AIDS 2006). The query result provides users with the prevalence of protease, RT and integrase mutations according to subtype and PI, nucleoside RT inhibitor (NRTI), non-nucleoside RT inhibitor (NNRTI), and integrase inhibitor (INI) exposure. This allows users to detect unusual sequence results immediately so that the person doing the sequencing can check the primary sequence output while it is still on the desktop. In addition, unexpected associations between sequences or isolates can be discovered by immediately retrieving data on isolates sharing one or more mutations with the sequence. There are three ways in which the HIVdb program can be used: (i) entering a list of protease and RT mutations, (ii) entering a complete sequence containing protease, RT, and/or integrase, and (iii) using a Web Service. HIVdb is an expert system that accepts user-submitted HIV-1 pol sequences and returns inferred levels of resistance to 20 FDA-approved ARV drugs including 8 PIs, 7 NRTIs, 4 NNRTIs, and - with this update - one INI. In the HIVdb system, each HIV-1 drug resistance mutation is assigned a drug penalty score and a comment; the total score for a drug is derived by adding the scores of each mutation associated with resistance to that drug. Using the total drug score, the program reports one of the following levels of inferred drug resistance: susceptible, potential low-level resistance, low-level resistance, intermediate resistance, and high-level resistance. HIValg is designed for users interested in comparing the results of different algorithms or who are interested in comparing and evaluating existing and newly developed algorithms. The ability to develop new algorithms that can be run on the HIV Drug Resistance Database depends on the Algorithm Specific Interface (ASI) compiler (Shafer & Betts JCM 2003). Submission of Sequences and Mutations For each of the three programs, sequences can be entered using either the Sequence Analysis Form or the Mutation List form. 3. EDUCATIONAL RESOURCES HIVDB contains several regularly updated sections summarizing data linking RT, protease, and integrase mutations and antiretroviral drugs (ARVs). These sections include (i) tabular summaries of the major mutations associated with each ARV class, (ii) detailed summaries of the major, minor, and accessory mutations associated with each ARV, (iii) the comments used by the HIVdb program, (iv) the scores used by the HIVdb program, (v) clinical studies in which baseline drug resistance mutations have been correlated with the virological response (clinical outcome) to a specific ARV, (vi) mutations that can be used for drug resistance surveillance, and (vii) a two-page PDF handout. 1. Drug Resistance Summaries Tabular Drug Resistance Summaries by ARV Class Detailed Drug Resistance Summaries by ARV Drug Resistance Mutation Comments Used by the HIVdb Program Drug Resistance Mutation Scores Used by the HIVdb Program Genotype-Clinical Outcome Correlation Studies 2. Surveillance Drug-Resistance Mutation List Section 3. PDF Handout Grant Support 1. National Institute for Allergy and Infectious Diseases (NIAID, NIH): Online HIV Drug Resistance Database (PI: Robert W. Shafer, MD, 1R01AI68581-01A1), 04/01/06 - 3/31/11 2. National Institute for Allergy and Infectious Diseases (NIAID, NIH) supplement to the grant Identification of Multidrug-Resistant HIV-1 Isolates (PI: Robert W. Shafer, MD, AI46148-01): Supplement provided 1999-2005. 3. NIH/NIGMS Program Project on AIDS Structural Biology Program Project: Targeting Ensembles of Drug Resistant Protease Variants (PI: Celia Schiffer, PhD, University of Massachusetts): 2002-2007 4. University-wide AIDS Research Program (CR03-ST-524). Community collaborative award: Optimizing Clinical HIV Genotypic Resistance Interpretation: Principal Investigators: Robert W. Shafer, MD and W. Jeffrey Fessel MD (Kaiser Permanente Medical Care Program): 2004-2005 5. Stanford University Bio-X Interdisciplinary Initiative: HIV Gene Sequence Analysis for Drug Resistance Studies: A Pharmacogenetic Challenge Principal Investigators: Robert W. Shafer, MD and Daphne Koller, Ph.D. (Computer Science): 2000-2002

Proper citation: Stanford University HIV Drug Resistance Database (RRID:SCR_006631) Copy   


  • RRID:SCR_006546

    This resource has 1+ mentions.

http://www.research.va.gov/programs/tissue_banking/als/

A human tissue bank that collects, processes, stores and gives out research specimens for future scientific studies. Presently, the VABBB is obtaining neurologic tissue specimens from Veterans who suffer from amyotrophic lateral sclerosis (ALS) and other illnesses that affect Veterans, along with relevant clinical data, essential for research. Currently, neither the cause nor prevention of ALS is known. Medical researchers are currently examining environmental, toxic, genetic, traumatic, medical, and occupational influences as possible contributors to the development and progression of ALS. Veterans have a higher risk of developing ALS compared with non-Veterans; however, the reasons for this higher risk are currently unknown. Any Veteran with ALS in the U.S. may enroll in the VABBB.

Proper citation: VA Biorepository Brain Bank (RRID:SCR_006546) Copy   


  • RRID:SCR_006168

    This resource has 50+ mentions.

https://www.iscaconsortium.org/

THIS RESOURCE IS NO LONGER IN SERVICE. Documented on June 22, 2022. A rapidly growing group of clinical cytogenetics and molecular genetics laboratories committed to improving quality of patient care related to clinical genetic testing using new molecular cytogenetic technologies including array comparative genomic hybridization (aCGH) and quantitative SNP analysis by microarrays or bead chip technology. They improve clinical care by providing a large publicly available database and forum where clinicians and researchers can share knowledge to expedite the understanding of copy number variation (CNV) in an abnormal population. The ISCA database contains whole genome array data from a subset of the ISCA Consortium clinical diagnostic laboratories. Array analysis was carried out on individuals with phenotypes including intellectual disability, autism, and developmental delay. Efforts of the Consortium include: # Clinical Utility: The ISCA Consortium has made recommendations regarding the appropriate clinical indications for cytogenetic array testing (Miller et al. AJHG 2010, PMID: 20466091). Currently, discussions are focused on pediatric applications for children with unexplained developmental delay, intellectual disability, autism and other developmental disabilities. A separate committee has been developed to address appropriate cancer genetic applications (http://www.urmc.rochester.edu/ccmc/). # Evidence-based standards for cytogenomic array design: The Consortium will develop recommendations for standards for the design, resolution and content of cytogenomic arrays using an evidence-based process and an international panel of experts in clinical genetics, clinical laboratory genetics (cytogenetics and molecular genetics), genomics and bioinformatics. This design is intended to be platform and vendor-neutral (common denominator is genome sequence coordinates), and is a dynamic process with input from the broader genetics community and evidence-based review by the expert panel (which will evolve into a Standing Committee with international representation). # Public Database for clinical and research community: It is essential that publicly available databases be created and maintained for cytogenetic array data generated in clinical testing laboratories. The ISCA data will be held in dbGaP and dbVar at NCBI/NIH and curated by a committee of clinical genetics laboratory experts. The very high quality of copy number data (i.e., deletions and duplications) coming from clinical laboratories combined with expert curation will produce an invaluable resource to the clinical and research communities. # Standards for interpretation of cytogenetic array results: Using the ISCA Database, along with other genomic and genetics databases, the Consortium will develop recommendations for the interpretation and reporting of pathogenic vs. benign copy number changes as well as imbalances of unknown clinical significance.

Proper citation: ISCA Consortium (RRID:SCR_006168) Copy   


  • RRID:SCR_006169

    This resource has 5000+ mentions.

http://www.ncbi.nlm.nih.gov/clinvar/

Archive of aggregated information about sequence variation and its relationship to human health. Provides reports of relationships among human variations and phenotypes along with supporting evidence. Submissions from clinical testing labs, research labs, locus-specific databases, expert panels and professional societies are welcome. Collects reports of variants found in patient samples, assertions made regarding their clinical significance, information about submitter, and other supporting data. Alleles described in submissions are mapped to reference sequences, and reported according to HGVS standard.

Proper citation: ClinVar (RRID:SCR_006169) Copy   


http://hmut-tr.sourceforge.net/

The Molecular Biology and Genetics Department at Bogazii University is one of the major reference laboratories in Turkey, specialized in molecular analysis of common genetic disorders. Over the years, the rapid accumulation of mutation data in connection with detailed clinical and laboratory information, has led to the idea of establishing a national database for storing, analysing and presenting it in a more efficient and systematic way. For this purpose, an interdisciplinary project was initiated in 1995. b-Thalassemia and Hemophilia-B Databases were selected as preliminary models, for they offer alternative design and implementation strategies due to different clinical and genetic characteristics. b-Thalassemia is an autosomal recessive disorder, characterized by microcytosis and hemolytic anemia, which is the result of reduced b-Globin chain synthesis. In Turkey, the disease is represented with a gene frequency of 2 and reflected by a wide spectrum of clinical manifestations with the presence of more than 40 different mutation. Currently, there is no database available for thalassemia mutations. Hemophilia B is an X-linked recessive disorder caused by heterogenous mutations, resulting in a marked deficit of coagulation factor IX (FIX); an essential component of the clotting mechanism. A hemophilia B database was first published in 1990 as a list of point mutations and short additions and deletions with 115 mutations comprising 216 entries Gene-, System-, or Disease- Specific Databases

Proper citation: Turkish Human Mutation Database (RRID:SCR_008246) Copy   


http://bioinfo-out.curie.fr/ittaca/

THIS RESOURCE IS NO LONGER IN SERVICE, documented on 6/12/25. ITTACA is a database created for Integrated Tumor Transcriptome Array and Clinical data Analysis. ITTACA centralizes public datasets containing both gene expression and clinical data and currently focuses on the types of cancer that are of particular interest to the Institut Curie: breast carcinoma, bladder carcinoma, and uveal melanoma. ITTACA is developed by the Institut Curie Bioinformatics group and the Molecular Oncology group of UMR144 CNRS/Institut Curie. A web interface allows users to carry out different class comparison analyses, including comparison of expression distribution profiles, tests for differential expression, patient survival analyses, and users can define their own patient groups according to clinical data or gene expression levels. The different functionalities implemented in ITTACA are: - To test if one or more gene, of your choice, is differentially expressed between two groups of samples exhibiting distinct phenotypes (Student and Wilcoxon tests). - The detection of genes differentially expressed (Significance Analysis of Microarrays) between two groups of samples. - The creation of histograms which represent the expression level according to a clinical parameter for each sample. - The computation of Kaplan Meier survival curves for each group. ITTACA has been developed to be a useful tool for comparing personal results to the existing results in the field of transcriptome studies with microarrays.

Proper citation: Integrated Tumor Transcriptome Array and Clinical data Analysis (RRID:SCR_008182) Copy   


http://www.bh4.org/BH4DatabasesBiodef.asp

THIS RESOURCE IS NO LONGER IN SERVICE, documented on August 26, 2016. The BIODEF database have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis. Approximately 2% of newborns with hyperphenylalaninaemia are deficient in tetrahydrobiopterin. Selective screening must be performed in all instances where hyperphenylalaninaemia is detected by neonatal screening. In the last 20 years, 308 patients with tetrahydrobiopterin deficiencies have been recognized as a result of screening carried out, worldwide, in Departments of Paediatrics. Of these 308 patients, 181 suffered from 6-pyruvoyltetrahydropterin synthase deficiency, 92 from dihydropteridine reductase deficiency, 13 from pterin-4a-carbinolamine dehydratase deficiency, 12 from GTP cyclohydrolase I deficiency, and 10 are still unclassified. The BIODEF database have tabulated the most common clinical and laboratory data related to hyperphenylalaninaemia and tetrahydrobiopterin deficiencies. Additionally, there are data regarding treatment, outcome, and DNA analysis. Preliminary evaluation reveals that the degree of hyperphenylalaninaemia can vary from normal to 2500 mumol/L. Analyses of pterins in urine and measurement of dihydropteridine reductase activity from Guthrie cards are absolutely essential tests for accurate diagnosis. There is a regional (demographic) variation in the frequency of tetrahydrobiopterin deficiencies indicating the highest incidence in Saudi Arabia, probably a consequence of the high consanguinity rate.

Proper citation: International Database of Tetrahydrobiopterin Deficiencies (RRID:SCR_008171) Copy   


http://www.uky.edu/coa/adc/investigators-research-resources

An organization which includes a tissue bank, a database, study design consultation, clinical resources, and a community registry database. The UK-ADC shares data with the NIA national database (NACC), as well as with independent, qualified investigators both within and outside the UK-ADC. This resource's associated tissue bank is comprised of anonymized brain tissue, blood, and cerebrospinal fluid samples from patients in the clinic, as well as frozen post-mortem brain tissue samples. This organization also shares research resources with the National Alzheimer's Coordinating Center (NACC), NACC collaborative initiatives, the Alzheimer's Disease Neuroimaging Initiative (ADNI), other Alzheimer Disease Centers (ADCs), and any qualified investigators from either the University of Kentucky or the general scientific community.

Proper citation: University of Kentucky's Alzheimer's Disease Center (RRID:SCR_008766) Copy   


http://www.nitrc.org/projects/fluctuations/

The methodology and applications of task independent fluctuation measures including: connectivity maps of fMRI resting state scans, research using EEG/MEG/PET etc, methods to remove non-neural fluctuations, and applications to clinical populations.

Proper citation: Task Independent Fluctuations Discussion (RRID:SCR_009515) Copy   



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