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BMC Genomics|July 17, 2019
A clinically validated whole genome pipeline for structural variant detection and analysisNir Neerman, Gregory Faust, Naomi Meeks, et al.Journal of AAPOS : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus|May 24, 2017
Lipogranulomatous subconjunctival nodules: a novel presentation in Blau syndromeMariam Ahmad, Meghan E Hermanson, Robert Enzenauer, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 24, 2024
The role of double heterozygotes of SLC3A1 and SLC7A9 in the prevalence of cystine stonesChen-Han Wilfred Wu, Ishita Patel, Katreya Lovrenert, et al.European Journal of Human Genetics : EJHG|January 19, 2017
Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndromeHeather Mason-Suares, Diana Toledo, Jean Gekas, et al.Molecular Genetics and Metabolism|January 13, 2026
L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkersRodrigo T Starosta, Miao He, Sara Gracie, et al.Urolithiasis|August 10, 2023
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explainChen-Han Wilfred Wu, Jad Badreddine, Joshua Chang, et al.HGG Advances|March 5, 2021
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationAdam W Hansen, Payal Arora, Michael M Khayat, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 17, 2024
Implementing evidence-based assertions of clinical actionability in the context of secondary findings: Updates from the ClinGen Actionability Working GroupChristine M Pak, Marian J Gilmore, Joanna E Bulkley, et al.American Journal of Human Genetics|November 4, 2017
De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderDavor Lessel, Claudia Schob, Sébastien Küry, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 20, 2016
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 familiesMichael D Fountain, Emmelien Aten, Megan T Cho, et al.Pageof 2