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On November 5-9, 2024, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… – 4:30 p.m. . Seyma Eroglu Ankylosing spine-brachydactyly syndrome: A possible novel skeletal dysplasia 2010T Kendall … for Genetic Disorders Platform talk: Rescue of Proteus syndrome lethality in mice with prenatal miransertib …
Event
On March 12-16, 2024, the National Human Genome Research Institute (NHGRI) will participate in the 2024 ACMG Annual Clinical Genetics Meeting - an annual medical and scientific conference continues to provide groundbreaking research and the latest advances in medical genetics, genomics and personalized medicine.
… IDH1 mosaicism P237 Diagnosis of Cornelia de Lange Syndrome Through EPISign Whole Genome Methylation Assay: …
Event
On November 1-5, 2023, the National Human Genome Research Institute (NHGRI) will participate in the ASHG Annual Meeting - the world's largest human genetics and genomics meeting and exposition. The annual meeting provides a forum for the presentation and discussion of cutting-edge science in all areas of human genetics.
… disease PB2372 Gustavo Nieto-Alamilla Hermansky-Pudlak Syndrome: Exploring the therapeutic effect of gene therapy … in human cancers PB5151 Molly Behan Hermansky-Pudlak Syndrome: Using AAV vectors to understand the development of …
Event
NHGRI and the University at Buffalo Center for Disability Studies will hold a two-day symposium on October 6-7, 2022 to address historical constructions of disability and ableism, with a focus on the “irreducibility” of individuals with disability and the history of disability.
… Conceals Social Determinants: The Case of Down Syndrome and COVID-19 Sara M. Bergstresser, Columbia …
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… et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In preparation). 5. Ariani Y , … -K, Jones KL , Abdul -Rahman OA , Ekure EN , et al . Down syndrome in diverse populations . Am J Med Genet Part A. 2017 … R, Shotelersuk V, Ekure EN , et al. 22q11.2 Deletion Syndrome in Diverse Populations . Am J Med Genet Part A. …
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… 10 Neat Facts About the X Chromosome genome.gov Turner syndrome Tr i s o m y X syndrome Sex chromosomes 23 pairs of Chromosomes CELL Female … can lead to a number of diseases. For example, trisomy X syndrome is caused by the presence of three X chromosomes …
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… Related Intellectual Disability (Beaulieu Boycott Innes Syndrome) in Two Siblings from India. Eur J Med Genet . 2020; … Dental Pattern with Hypodontia and Short Roots in Fraser Syndrome. Am J Med Genet A. 2020; 182(7):1681 -1689. 36. … M, Hernández - Iñiguez M, Recalde -Baez MA. Schaaf -Yang Syndrome: An Example of Genomic Imprinting and Expanding …
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… • New Lab at NHGRI • Focus on Prenatal Treatment of Down syndrome • Incidental Findings Following Prenatal DNA … Prenatal diagnosis WGS Changes Management: Bartter’s Syndrome • Rare, genetically heterogeneous condition • Renal … antenatal cases resolve spontaneously Antenatal Bartter’s Syndrome 16 From Laghmani et al. N Engl J Med 2016; …
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… their cells (the XXY variation is called the Klinefelter syndrome ), and many men lose the Y chromosome from their … while the X chromosome has about 900 genes. Klinefelter syndrome X Chromosome Y Chromosome … Y Chromosome Fact Sheet …