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Neurogenetics|July 13, 2010
Efficient identification of novel mutations in patients with limb girdle muscular dystrophySteven E Boyden, Mustafa A Salih, Anna R Duncan, et al.American Journal of Human Genetics|September 1, 2009
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophyLucie Gueneau, Anne T Bertrand, Jean-Philippe Jais, et al.Brain : a Journal of Neurology|January 9, 2008
Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromesVioleta Mihaylova, Juliane S Müller, Juan J Vilchez, et al.Journal of Human Genetics|October 7, 2016
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United StatesHemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, et al.Brain : a Journal of Neurology|December 27, 2013
The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardationMartial Mallaret, Matthis Synofzik, Jaeho Lee, et al.Brain : a Journal of Neurology|November 29, 2011
The neurology of carbonic anhydrase type II deficiency syndromeThomas M Bosley, Mustafa A Salih, Ibrahim A Alorainy, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 16, 2014
The clinical utility of molecular karyotyping for neurocognitive phenotypes in a consanguineous populationSarah M Al-Qattan, Salma M Wakil, Shamsa Anazi, et al.Clinical Genetics|October 12, 2022
Delineation of the clinical profile of CNOT2 haploinsufficiency and overview of the IDNADFS phenotypeMarcello Niceta, Simone Pizzi, Francesca Inzana, et al.Frontiers in Pediatrics|November 9, 2020
Acute Necrotizing Encephalopathy of Childhood: A Multicenter Experience in Saudi ArabiaFahad A Bashiri, Sultan Al Johani, Muddathir H Hamad, et al.Plos One|October 17, 2013
New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsMustafa A Salih, Emeline Mundwiller, Arif O Khan, et al.Pageof 13