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Journal of Medical Genetics|September 11, 1998
Sperm DNA analysis in a Friedreich ataxia premutation carrier suggests both meiotic and mitotic expansion in the FRDA geneM B Delatycki, D Paris, R J Gardner, et al.Journal of Medical Genetics|September 11, 1998
Del(18p) shown to be a cryptic translocation using a multiprobe FISH assay for subtelomeric chromosome rearrangementsS W Horsley, S J Knight, J Nixon, et al.Journal of Medical Genetics|September 11, 1998
Men in breast cancer families: a preliminary qualitative study of awareness and experienceM F McAllister, D G Evans, W Ormiston, et al.Journal of Medical Genetics|July 14, 2012
Identification of the first recurrent PAR1 deletion in Léri-Weill dyschondrosteosis and idiopathic short stature reveals the presence of a novel SHOX enhancerSara Benito-Sanz, Jose Luis Royo, Eva Barroso, et al.Journal of Medical Genetics|September 11, 2012
Multiple sequence variants of BRCA2 exon 7 alter splicing regulationPascaline Gaildrat, Sophie Krieger, Daniela Di Giacomo, et al.Journal of Medical Genetics|September 11, 2012
Dominantly inherited diabetes mellitus caused by GATA6 haploinsufficiency: variable intrafamilial presentationTohru Yorifuji, Rie Kawakita, Yuki Hosokawa, et al.Journal of Medical Genetics|September 14, 2012
Exome sequencing identifies a COL14A1 mutation in a large Chinese pedigree with punctate palmoplantar keratodermaBi-Rong Guo, Xin Zhang, Gang Chen, et al.Journal of Medical Genetics|September 14, 2012
Complex I deficiency: clinical features, biochemistry and molecular geneticsElisa Fassone, Shamima RahmanJournal of Medical Genetics|September 14, 2012
Deletion of the 3q26 region including the EVI1 and MDS1 genes in a neonate with congenital thrombocytopenia and subsequent aplastic anaemiaMaartje Nielsen, Clementien L Vermont, Emmelien Aten, et al.Journal of Medical Genetics|October 27, 2012
Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosisXin Zhang, Bi-Rong Guo, Li-Qiong Cai, et al.Pageof 649