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Journal of Medical Genetics|September 8, 2001
Breakpoint analysis of Turner patients with partial Xp deletions: implications for the lymphoedema gene locationC A Boucher, C A Sargent, T Ogata, et al.
Journal of Medical Genetics|October 5, 2001
The expanding phenotype of laminin alpha2 chain (merosin) abnormalities: case series and reviewK J Jones, G Morgan, H Johnston, et al.
Journal of Medical Genetics|October 5, 2001
Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36D J Hampshire, E Roberts, Y Crow, et al.
Journal of Medical Genetics|May 23, 2001
The mannose binding lectin gene influences the severity of chronic liver disease in cystic fibrosisM Gabolde, D Hubert, M Guilloud-Bataille, et al.
Journal of Medical Genetics|June 1, 1975
Two family studies on congenital dislocation of the hip after early orthopaedic screening HungaryA Czeizel, J Szentpétery, G Tusnády, et al.
Journal of Medical Genetics|June 1, 1975
Population studies on Gilbert's syndromeD Owens, J Evans
Journal of Medical Genetics|October 21, 1999
Microdeletions in FMR2 may be a significant cause of premature ovarian failureA Murray, J Webb, N Dennis, et al.
Journal of Medical Genetics|January 14, 2000
An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14P Lichtner, R König, T Hasegawa, et al.
Journal of Medical Genetics|February 9, 2000
Genetic susceptibility to age related macular degenerationJ R Yates, A T Moore
Journal of Medical Genetics|February 9, 2000
Disruption of heart sarcoglycan complex and severe cardiomyopathy caused by beta sarcoglycan mutationsR Barresi, C Di Blasi, T Negri, et al.
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