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Journal of Medical Genetics|March 1, 1996
Molecular analysis of the arylsulphatase A gene in late infantile metachromatic leucodystrophy patients and healthy subjects from ItalyS Regis, M Filocamo, M Stroppiano, et al.Journal of Medical Genetics|March 1, 1996
Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitusA W Thomas, A Edwards, E J Sherratt, et al.Journal of Medical Genetics|March 1, 1996
Clinical heterogeneity in hereditary haemorrhagic telangiectasia: are pulmonary arteriovenous malformations more common in families linked to endoglin?J N Berg, A E Guttmacher, D A Marchuk, et al.Journal of Medical Genetics|April 1, 1996
Holt-Oram syndrome: a clinical genetic studyR A Newbury-Ecob, R Leanage, J A Raeburn, et al.Journal of Medical Genetics|April 1, 1996
A novel splice site mutation in a Becker muscular dystrophy patientC Bartolo, A C Papp, P J Snyder, et al.Journal of Medical Genetics|April 1, 1996
Phenotypic expression in von Hippel-Lindau disease: correlations with germline VHL gene mutationsE R Maher, A R Webster, F M Richards, et al.Journal of Medical Genetics|April 1, 1996
Familial cluster of ovarian small cell carcinoma: a new mendelian entity?M Longy, C Toulouse, P Mage, et al.Journal of Medical Genetics|May 1, 1996
Mutation analysis in 24 French patients with glycogen storage disease type 1aF Chevalier-Porst, D Bozon, A M Bonardot, et al.Journal of Medical Genetics|May 1, 1996
Monosomy of distal 4q does not cause facioscapulohumeral muscular dystrophyR Tupler, A Berardinelli, L Barbierato, et al.Journal of Medical Genetics|May 1, 1996
Cytogenetic and epidemiological findings in Down syndrome, England and Wales 1989 to 1993. National Down Syndrome Cytogenetic Register and the Association of Clinical CytogeneticistsD Mutton, E Alberman, E B HookPageof 649