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Journal of Medical Genetics|March 27, 2019
Allele frequency analysis of variants reported to cause autosomal dominant inherited retinal diseases question the involvement of 19% of genes and 10% of reported pathogenic variantsMor Hanany, Dror SharonJournal of Medical Genetics|February 27, 2019
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosisBrooke Sadler, Gabe Haller, Lilian Antunes, et al.Journal of Medical Genetics|February 28, 2019
Genome-wide meta-analysis identifies genetic locus on chromosome 9 associated with Modic changesMaxim Freidin, Minna Kraatari, Sini Skarp, et al.Journal of Medical Genetics|February 1, 1986
Gene mapping and chromosome 19D J Shaw, J D Brook, A L Meredith, et al.Journal of Medical Genetics|October 7, 2019
Recurrent homozygous damaging mutation in TMX2, encoding a protein disulfide isomerase, in four families with microlissencephalyShereen Georges Ghosh, Lu Wang, Martin W Breuss, et al.Journal of Medical Genetics|October 7, 2019
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studiesMassimo Bogliolo, Roser Pujol, Miriam Aza-Carmona, et al.Journal of Medical Genetics|January 26, 2021
Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry diseaseAlbina Nowak, Felix Beuschlein, Visnuka Sivasubramaniam, et al.Journal of Medical Genetics|January 1, 1988
Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new associationA S Teebi, S A Al-Awadi, M J Marafie, et al.Journal of Medical Genetics|January 1, 1988
Prenatal diagnosis of inv(X)(q12q28) in a male fetusR L Neu, H S Brar, B J KoosJournal of Medical Genetics|March 1, 1988
The frequency of consanguineous marriage among British PakistanisA Darr, B ModellPageof 649