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Intramural Training Office
Three-minute talk (TmT) presentation videos from previous years dating back to 2015.
… for Disease Progression and Response to Treatment in Hutchinson-Gilford Progeria Syndrome Abhirami Thaivalappil Postbaccalaureate …
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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 …
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… and testing strategies to improve inherited cancer syndrome case ascertainment among cancer and primary care …
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… Toolkit – Information for patients and providers on Lynch syndrome https://www.cdc.gov/ … and Lynch syndrome … screening for hereditary breast and ovarian cancer, Lynch syndrome, and familial hypercholesterolemia. OGPPH is also in … of Autism Spectrum Disorder (Updated June 2018) 4. Lynch Syndrome: Hereditary Nonpolyposis Colorectal Cancer Syndrome …