Showing results (471-480 of 526) with videos related to

Sort By:
Pageof 53
American Journal of Human Genetics|May 7, 2013
Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticityRyan J Taft, Adeline Vanderver, Richard J Leventer, et al.
Nature Genetics|January 17, 2017
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processingRea M Lardelli, Ashleigh E Schaffer, Veerle R C Eggens, et al.
American Journal of Human Genetics|May 14, 2013
Mutations in B3GALT6, which encodes a glycosaminoglycan linker region enzyme, cause a spectrum of skeletal and connective tissue disordersMasahiro Nakajima, Shuji Mizumoto, Noriko Miyake, et al.
Brain Communications|December 15, 2021
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathyLaura C Bott, Mitra Forouhan, Maria Lieto, et al.
Epilepsia|September 27, 2016
The molecular and phenotypic spectrum of IQSEC2-related epilepsyAyelet Zerem, Kazuhiro Haginoya, Dorit Lev, et al.
American Journal of Human Genetics|May 18, 2004
Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type MaroteauxCynthia F Bartels, Hulya Bükülmez, Pius Padayatti, et al.
Molecular Genetics and Metabolism|September 17, 2013
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxaAikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, et al.
Genetics in Medicine Open|October 15, 2025
How does personal utility depend on clinical setting? Evidence from 3 cohortsElise Poole, Stephanie Luca, Daniel Assamad, et al.
Neurology|August 13, 2013
Clinical spectrum of SCN2A mutations expanding to Ohtahara syndromeKazuyuki Nakamura, Mitsuhiro Kato, Hitoshi Osaka, et al.
American Journal of Human Genetics|May 14, 2026
A next-generation episignature for Kabuki syndrome enables fine mapping of the impact of KMT2D variants to inform precision medicineMengqi Wang, Shaimaa Helal, Arteen Torabi-Marashi, et al.
Pageof 53