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Human Mutation|July 3, 2019
Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisVandana Shashi, Janelle Geist, Youngha Lee, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 7, 2022
Characterization of sedation and anesthesia complications in patients with alternating hemiplegia of childhoodLauren E Parker, Keri Wallace, Arthur Thevathasan, et al.
Brain Communications|August 16, 2021
Alternating hemiplegia of childhood: evolution over time and mouse model corroborationJulie Uchitel, Keri Wallace, Linh Tran, et al.
Human Molecular Genetics|April 11, 2022
The microRNA processor DROSHA is a candidate gene for a severe progressive neurological disorderScott Barish, Mumine Senturk, Kelly Schoch, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 16, 2017
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesLoren D M Pena, Yong-Hui Jiang, Kelly Schoch, et al.
American Journal of Human Genetics|January 31, 2017
A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayKelly Schoch, Linyan Meng, Szabolcs Szelinger, et al.
American Journal of Human Genetics|July 31, 2018
IRF2BPL Is Associated with Neurological PhenotypesPaul C Marcogliese, Vandana Shashi, Rebecca C Spillmann, et al.
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