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Journal of Medical Genetics|April 5, 2005
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome)K W Kjaer, L Hansen, G C Schwabe, et al.Journal of Medical Genetics|April 5, 2005
Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndromeK Tatton-Brown, J Douglas, K Coleman, et al.Journal of Medical Genetics|April 1, 1992
Screening of microdeletions of chromosome 20 in patients with Alagille syndromeC Desmaze, J F Deleuze, A M Dutrillaux, et al.Journal of Medical Genetics|April 1, 1992
Genetic and clinical studies in autosomal dominant polycystic kidney disease type 1 (ADPKD1)E Coto, S Aguado, J Alvarez, et al.Journal of Medical Genetics|April 1, 1992
Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocationI D Young, J M Zuccollo, E L Maltby, et al.Journal of Medical Genetics|April 1, 1992
Evidence that Rieger syndrome maps to 4q25 or 4q27C Vaux, L Sheffield, C G Keith, et al.Journal of Medical Genetics|April 1, 1992
The Baller-Gerold syndromeL Van Maldergem, A Verloes, L Lejeune, et al.Journal of Medical Genetics|May 1, 1992
Late onset dominant cone dystrophy with early blue cone involvementL N Went, M J van Schooneveld, J A OosterhuisJournal of Medical Genetics|May 1, 1992
Reverse chromosome painting: a method for the rapid analysis of aberrant chromosomes in clinical cytogeneticsN P Carter, M A Ferguson-Smith, M T Perryman, et al.Journal of Medical Genetics|May 1, 1992
Principles and practicalities of carrier screening: attitudes of recent parentsJ M GreenPageof 649