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- Developmental Genotype-Tissue Expression (dGTEx)1
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- Genomics Research to Elucidate the Genetics of Rare Diseases (GREGOR) Consortium1
For Health Professionals
Archives of ISCC-PEG webinars, articles, case studies and more.
… hearing loss and deafness Type of Case Study: Gene-Based Intervention for Aminoglycoside Sensitivity …
News Release
The Undiagnosed Diseases Network has opened an online patient application portal called the UDN Gateway.
News Release
Dr. William Gahl, NHGRI Clinical Director, gave the Samuel Pruzansky Memorial Lecture on March 23 for the March of Dimes Clinical Genetics Conference.
… N=1 diagnosis. "An N=1 diagnosis involves a person with a gene variant that is causing disease, but the person is the …
Event
The Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC-PEG) held its ninth in-person meeting on February 25, 2020, in Bethesda, Maryland.
… Intellectual & Developmental Disabilities Branch NICHD Gene Passamani NCATS Susan Persky* NHGRI Teresa Ramirez NIH …
For Patients and Families
List of resources to help you find accurate and reliable information on genetic and rare diseases.
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