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Journal of Medical Genetics|May 3, 2013
A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGTMalin Kvarnung, Daniel Nilsson, Anna Lindstrand, et al.Journal of Medical Genetics|April 6, 2013
Impact of direct-to-consumer genomic testing at long term follow-upCinnamon S Bloss, Nathan E Wineinger, Burcu F Darst, et al.Journal of Medical Genetics|March 29, 2013
Inheritance of autoinflammatory diseases: shifting paradigms and nomenclatureIsabelle TouitouJournal of Medical Genetics|June 21, 2013
Digenic inheritance in medical geneticsAlejandro A SchäfferJournal of Medical Genetics|March 26, 2013
Recent advances in the genetics of sarcoidosisPaolo Spagnolo, Johan GrunewaldJournal of Medical Genetics|May 1, 1990
A linkage study of a large pedigree with X linked centronuclear myopathyJ Starr, M Lamont, L Iselius, et al.Journal of Medical Genetics|May 1, 1990
X linked neonatal centronuclear/myotubular myopathy: evidence for linkage to Xq28 DNA marker lociN S Thomas, H Williams, G Cole, et al.Journal of Medical Genetics|May 1, 1990
Unknown syndrome. A possible new X linked retardation syndrome: dysmorphic facies, microcephaly, hypotonia, and small genitaliaM E Porteous, J BurnJournal of Medical Genetics|May 12, 2012
A human laterality disorder associated with recessive CCDC11 mutationZeev Perles, Yuval Cinnamon, Asaf Ta-Shma, et al.Journal of Medical Genetics|May 15, 2012
A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β geneMerel S Ebberink, Janet Koster, Gepke Visser, et al.Pageof 649