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Neurobiology of Disease|July 19, 2005
Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulatedNatalia Yarovaya, Rachel Schot, Lisa Fodero, et al.Neurology. Genetics|January 26, 2023
Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar AtaxiaSean Massey, Yiran Guo, Lisa G Riley, et al.Neurogenetics|March 20, 2008
Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiencyOfir T Betsalel, Jiddeke M van de Kamp, Cristina Martínez-Muñoz, et al.Acta Neuropathologica|May 13, 2018
Aging alters the immunological response to ischemic strokeRodney M Ritzel, Yun-Ju Lai, Joshua D Crapser, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2015
The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literatureMarije E C Meuwissen, Dicky J J Halley, Liesbeth S Smit, et al.European Journal of Medical Genetics|November 5, 2018
Mutated zinc finger protein of the cerebellum 1 leads to microcephaly, cortical malformation, callosal agenesis, cerebellar dysplasia, tethered cord and scoliosisLaura V Vandervore, Rachel Schot, A Jeannette M Hoogeboom, et al.American Journal of Medical Genetics. Part A|February 16, 2005
Autosomal dominant inheritance of left ventricular outflow tract obstructionMarja W Wessels, Rolf M F Berger, Ingrid M E Frohn-Mulder, et al.Human Mutation|November 14, 2008
Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1Wenke Seifert, Muriel Holder-Espinasse, Jirko Kühnisch, et al.Nature|December 22, 2016
XRCC1 mutation is associated with PARP1 hyperactivation and cerebellar ataxiaNicolas C Hoch, Hana Hanzlikova, Stuart L Rulten, et al.Clinical Genetics|February 18, 2014
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)S Banka, D Lederer, V Benoit, et al.Pageof 44