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Elife|August 7, 2016
Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentationBianca Hartmann, Timothy Wai, Hao Hu, et al.Journal of Inherited Metabolic Disease|December 15, 2020
Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxaGuido Vogt, Naji El Choubassi, Ágnes Herczegfalvi, et al.American Journal of Human Genetics|July 11, 2006
Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunitKatrin Hoffmann, Juliane S Muller, Sigmar Stricker, et al.Plos Genetics|April 29, 2017
Homozygous ARHGEF2 mutation causes intellectual disability and midbrain-hindbrain malformationEthiraj Ravindran, Hao Hu, Scott A Yuzwa, et al.American Journal of Human Genetics|March 1, 2016
Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone FracturesEllen Knierim, Hiromi Hirata, Nicole I Wolf, et al.Annals of Clinical and Translational Neurology|January 10, 2015
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weaknessHao Hu, Michelle L Matter, Lina Issa-Jahns, et al.Annals of Neurology|December 19, 2003
Infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1)Katja Grohmann, Raymonda Varon, Piroschka Stolz, et al.Nature Genetics|November 22, 2011
Mutations in MEGF10, a regulator of satellite cell myogenesis, cause early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD)Clare V Logan, Barbara Lucke, Caroline Pottinger, et al.Journal of Medical Genetics|April 10, 2014
Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrumAnne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, et al.Neurology|January 4, 2013
Pontocerebellar hypoplasia type 1: clinical spectrum and relevance of EXOSC3 mutationsSabine Rudnik-Schöneborn, Jan Senderek, Joanna C Jen, et al.Pageof 4