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International Journal of Molecular Sciences|November 27, 2024
Duchenne Muscular Dystrophy in Two Half-Brothers Due to Inherited 306 Kb Inverted Insertion of 10p15.1 into Intron 44 of the Dp427m Transcript of the <i>DMD</i> GeneWayne M Jepsen, Andrew Fazenbaker, Keri Ramsey, et al.
American Journal of Medical Genetics. Part A|June 24, 2004
Cohen syndrome in the Ohio AmishMarni J Falk, Heidi S Feiler, Derek E Neilson, et al.
JCI Insight|June 17, 2024
FDXR variants cause adrenal insufficiency and atypical sexual developmentEmanuele Pignatti, Jesse Slone, María Ángeles Gómez Cano, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|October 12, 2021
A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic ParaplegiaDerek E Neilson, Michael Zech, Robert B Hufnagel, et al.
American Journal of Human Genetics|January 3, 2009
Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2Derek E Neilson, Mark D Adams, Caitlin M D Orr, et al.
Brain : a Journal of Neurology|September 8, 2022
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsyKari A Mattison, Gilles Tossing, Fred Mulroe, et al.
Brain : a Journal of Neurology|September 15, 2023
TRAPPC6B biallelic variants cause a neurodevelopmental disorder with TRAPP II and trafficking disruptionsHashem Almousa, Sara A Lewis, Somayeh Bakhtiari, et al.
American Journal of Human Genetics|September 9, 2025
A clinical and genotype-phenotype analysis of MACF1 variantsJordy Dekker, Rachel Schot, Kimberly A Aldinger, et al.
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