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Epilepsia|June 14, 2012
Intractable epilepsy of infancy due to homozygous mutation in the EFHC1 geneItai Berger, Talya Dor, Jonatan Halvardson, et al.Journal of Medical Genetics|July 2, 2013
West syndrome, microcephaly, grey matter heterotopia and hypoplasia of corpus callosum due to a novel ARFGEF2 mutationEhud Banne, Osama Atawneh, Marco Henneke, et al.The EMBO Journal|February 7, 2025
Mutations in the kinesin KIF12 promote MASH in humans and mice by disrupting lipogenic enzyme turnoverAsieh Etemad, Yosuke Tanaka, Shuo Wang, et al.Neurogenetics|May 12, 2017
Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN geneMaher Awni Shahrour, Motee Ashhab, Simon Edvardson, et al.Metabolic Brain Disease|January 20, 2021
A novel de novo heterozygous pathogenic variant in the SDHA gene results in childhood onset bilateral optic atrophy and cognitive impairmentYoav Zehavi, Ann Saada, Haneen Jabaly-Habib, et al.BMC Neurology|May 22, 2016
Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature reviewMatthias Kettwig, Orly Elpeleg, Eike Wegener, et al.Journal of Human Genetics|February 22, 2021
A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathyAlessia Nasca, Ivano Di Meo, Yakov Fellig, et al.Annals of Neurology|April 24, 2012
Hereditary sensory autonomic neuropathy caused by a mutation in dystoninSimon Edvardson, Yuval Cinnamon, Chaim Jalas, et al.Molecular Genetics and Metabolism|January 9, 2008
The unique neuroradiology of complex I deficiency due to NDUFA12L defectFlora Barghuti, Khaled Elian, John Moshe Gomori, et al.European Journal of Human Genetics : EJHG|November 23, 2020
Parental exome analysis identifies shared carrier status for a second recessive disorder in couples with an affected childHagar Mor-Shaked, Jonathan Rips, Shiri Gershon Naamat, et al.Pageof 22