Showing results (1-10 of 5) with videos related to
Sort By:
Pageof 1
Human Mutation|February 22, 2002
Identification of a novel NOG gene mutation (P35S) in an Italian family with symphalangismM Mangino, E Flex, M C Digilio, et al.Journal of Medical Genetics|April 5, 2003
Mapping of a new autosomal dominant non-syndromic hearing loss locus (DFNA43) to chromosome 2p12E Flex, M Mangino, M Mazzoli, et al.Journal of Neurology|January 18, 2005
LGI1 gene mutation screening in sporadic partial epilepsy with auditory featuresE Flex, A Pizzuti, C Di Bonaventura, et al.European Journal of Human Genetics : EJHG|September 26, 2001
Mapping of a new autosomal dominant nonsyndromic hearing loss locus (DFNA30) to chromosome 15q25-26M Mangino, E Flex, F Capon, et al.Clinical Genetics|November 4, 2016
Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathyB Pode-Shakked, H Barash, L Ziv, et al.Pageof 1