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Journal of Medical Genetics|June 1, 1993
A new restriction fragment length polymorphism at the DXS101 locus allows carrier detection in a family with X linked agammaglobulinaemiaA Sweatman, R Lovering, H Middleton-Price, et al.Journal of Medical Genetics|September 1, 1989
Duchenne muscular dystrophy in Wales: impact of DNA linkage analysis and cDNA deletion screeningA M Norman, M Upadhyaya, N S Thomas, et al.Journal of Medical Genetics|September 25, 2019
Presence of pathogenic copy number variants (CNVs) is correlated with socioeconomic statusGeorge J Burghel, Unzela Khan, Wei-Yu Lin, et al.Journal of Medical Genetics|December 1, 1988
Visual evoked potentials in Negro carriers of the gene for tyrosinase positive oculocutaneous albinismD Castle, J Kromberg, R Kowalsky, et al.Journal of Medical Genetics|October 25, 2018
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disordersVictor Murcia Pienkowski, Marzena Kucharczyk, Marlena Młynek, et al.Journal of Medical Genetics|December 17, 2021
Loeys-Dietz and Shprintzen-Goldberg syndromes: analysis of TGF-β-opathies with craniofacial manifestations using an innovative multimodality methodKonstantinia Almpani, Denise K Liberton, Priyam Jani, et al.Journal of Medical Genetics|December 17, 2021
Redefining WILD syndrome: a primary lymphatic dysplasia with congenital multisegmental lymphoedema, cutaneous lymphovascular malformation, CD4 lymphopaenia and wartsSahar Mansour, Katherine S Josephs, Pia Ostergaard, et al.Journal of Medical Genetics|August 1, 2019
Segregation of two variants suggests the presence of autosomal dominant and recessive forms of WFS1-related disease within the same family: expanding the phenotypic spectrum of Wolfram SyndromeLaina Lusk, Emily Black, Jaime VengoecheaJournal of Medical Genetics|August 9, 2019
Tumour characteristics provide evidence for germline mismatch repair missense variant pathogenicityShuwei Li, Dajun Qian, Bryony A Thompson, et al.Journal of Medical Genetics|April 1, 1988
Autosomal recessive inheritance of Nager acrofacial dysostosisJ Chemke, B M Mogilner, I Ben-Itzhak, et al.Pageof 649