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Neuro-Oncology|July 5, 2022
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensusPeter M K de Blank, Andrea M Gross, Srivandana Akshintala, et al.Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2021
Genome sequencing as a first-line diagnostic test for hospitalized infantsKevin M Bowling, Michelle L Thompson, Candice R Finnila, et al.Journal of Personalized Medicine|July 29, 2023
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care UnitAmy A Lemke, Michelle L Thompson, Emily C Gimpel, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 3, 2018
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 8, 2018
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlationMagdalena Koczkowska, Tom Callens, Alicia Gomes, et al.American Journal of Human Genetics|December 31, 2022
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotypeSusan M Hiatt, Slavica Trajkova, Matteo Rossi Sebastiano, et al.Pageof 5