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Human Heredity|May 11, 2004
Multilocus analysis of hypertension: a hierarchical approachScott M Williams, Marylyn D Ritchie, John A Phillips, et al.Neurogenetics|August 11, 2025
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 geneB Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.American Journal of Medical Genetics. Part A|March 20, 2020
Limitations of exome sequencing in detecting rare and undiagnosed diseasesKendall J Burdick, Joy D Cogan, Lynette C Rives, et al.Nature Metabolism|September 28, 2023
Efficacy and safety of a synthetic biotic for treatment of phenylketonuria: a phase 2 clinical trialJerry Vockley, Neal Sondheimer, Marja Puurunen, et al.Nature Metabolism|July 23, 2021
Safety and pharmacodynamics of an engineered E. coli Nissle for the treatment of phenylketonuria: a first-in-human phase 1/2a studyMarja K Puurunen, Jerry Vockley, Shawn L Searle, et al.HGG Advances|August 29, 2022
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variantsSouhrid Mukherjee, Thomas A Cassini, Ningning Hu, et al.American Journal of Medical Genetics. Part A|August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid MosaicismRussell Stewart, Kimberly M Ezell, Deanna S Bell, et al.Cold Spring Harbor Molecular Case Studies|April 3, 2021
A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathyLauren C Briere, Melissa A Walker, Frances A High, et al.Human Mutation|March 26, 2003
Novel mutations of the growth hormone 1 (GH1) gene disclosed by modulation of the clinical selection criteria for individuals with short statureDavid S Millar, Mark D Lewis, Martin Horan, et al.American Journal of Medical Genetics. Part A|February 2, 2018
Clinical heterogeneity of mitochondrial NAD kinase deficiency caused by a NADK2 start loss variantDaniel J Pomerantz, Sacha Ferdinandusse, Joy Cogan, et al.Pageof 15