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… P et al. Loss of heterozygosity in children with multiple congenital anomaly. 2017. (In preparation). 4. Ariani Y , Priambodo R et al. Specific amino acid changes of congenital nephrotic syndrome in Indonesia. 2017 (In … of Health (NIH) and National Institute of Neurological Disorders and Stroke (NINDS) (Grant 1U54HG007479 -01) . 2. …
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… C, Yoganathan S. a Case Report of a Child with Congenital Lymphoproliferative Disease Type 2, Presented with … N, Thewarapperuma C. a Case Report of a Child with Congenital Amegakaryocytic Thrombocytopenia. 2020. (In … PA. Systematic Review of Congenital, Genetic and Rare Disorders Reported in Ghana. 2020. (In Preparation). 15. …
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… 5 pm Break 3.45 - 4.45 pm Clinical Aspects of Cytogenetic Disorders Dr. Max Muenke , Director, Medical Genetics & … , Senior Investigator, Neuromuscular & Neurogenetic Disorders Of Childhood Section, NINDS 9.15 - 10.15 am Genetic … Newborn Screening Programs Prevention and Care of Congenital and Genetic Disorders in High Burden Countries: …
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… Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss; for the Professional Practice and … Genetics Conference, "Interdisciplinary Approaches to Disorders of Sex Development : From Genes to Quality of Life" … Plenary Session with the Society for Inherited Metabolic Disorders (SIMD) • Abstract submission opens in October 2014; …
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… to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows investigators … exome sequencing for rare and more common conditions with congenital to adult onset. Scheduled from 2:00 - 3:00 pm ET …
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… expanding the number of causative genes known for genetic disorders. We are finding that for many rare genetic disorders identified in children, there is a new mutation not … to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows …
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… of genetic services and patients affected by genetic disorders could now benefit from national representation, and … to improve the health outcomes of newborns with genetic or congenital disorders through an infrastructure that allows investigators …
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… et al., De novo mutations in histone -modifying genes in congenital heart disease. Nature. 2013 Jun 13;498(7453):220 … whole -exome sequencing for the diagnosis of mendelian disorders. NEJM 2013. ( Ordered by 1 st author ) 2014 AJHG …
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… with high clinical validity–Genes strongly implicated in congenital or undiagnosed diseases–Genes depleted for …
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… Human Genome Research Institute, NIH Projects: Genetics of Congenital Heart Disease in Africa; Genetic Basis of Acquired …