Showing results (11-20 of 55) with videos related to
Sort By:
Pageof 6
American Journal of Medical Genetics. Part A|January 18, 2018
Phenotypic heterogeneity of ZMPSTE24 deficiencyThomas A Cassini, Amy K Robertson, Anna G Bican, et al.American Journal of Medical Genetics. Part A|August 25, 2023
A medical odyssey of a 72-year-old man with Charcot-Marie-Tooth disease type 2 newly diagnosed with biallelic variants in SORD gene causing sorbitol dehydrogenase deficiencyYutaka Furuta, Erica T Nelson, Serena M Neumann, et al.Pulmonary Circulation|February 21, 2025
RNA-Seq and ChIP-Seq Identification of Unique and Overlapping Target Genes and Pathways Regulated by TBX4 in Human Pulmonary Fibroblasts and PericytesYing Cai, Ling Yan, Joy D Cogan, et al.American Journal of Ophthalmology|August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic DilemmasRory J Tinker, Logan M Smith, Lisa A Bastarache, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 19, 2005
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertensionJoy D Cogan, Cindy L Vnencak-Jones, John A Phillips, et al.American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.American Journal of Medical Genetics. Part A|October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemiaYutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.American Journal of Medical Genetics. Part A|March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantKimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.Plos Genetics|April 13, 2011
Ancestral mutation in telomerase causes defects in repeat addition processivity and manifests as familial pulmonary fibrosisJonathan K Alder, Joy D Cogan, Andrew F Brown, et al.Pulmonary Circulation|January 12, 2019
Low-grade albuminuria in pulmonary arterial hypertensionNils P Nickel, Vinicio A de Jesus Perez, Roham T Zamanian, et al.Pageof 6