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Human Molecular Genetics|August 1, 1997
The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic casesC S Rose, P Patel, W Reardon, et al.The Quarterly Journal of Medicine|April 1, 1988
Family screening in medullary thyroid carcinoma presenting without a family historyB A Ponder, N Finer, R Coffey, et al.American Journal of Medical Genetics|January 1, 1987
DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patientsM A Patton, S Krywawych, R M Winter, et al.Clinical Dysmorphology|April 1, 1994
Megalocornea, developmental retardation and dysmorphic features: two further patientsM L Gibbs, A O Wilkie, R M Winter, et al.American Journal of Medical Genetics|October 1, 1983
The Weissenbacher-Zweymüller, Stickler, and Marshall syndromes: further evidence for their identityR M Winter, M Baraitser, K M Laurence, et al.Journal of Medical Genetics|May 1, 1989
Moore-Federman syndrome and acromicric dysplasia: are they the same entity?R M Winter, M A Patton, J Challener, et al.Journal of Medical Genetics|December 14, 1999
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32M M Lees, R M Winter, S Malcolm, et al.Clinical Dysmorphology|April 18, 1998
Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome)J Amiel, P M Watkin, M Tassabehji, et al.Journal of Medical Genetics|June 1, 1992
Confirmation of an association between RFLPs at the transforming growth factor-alpha locus and non-syndromic cleft lip and palateS E Holder, G M Vintiner, B Farren, et al.Clinical Dysmorphology|April 20, 2001
Diagnostic dilemmas in four infants with nephrotic syndrome, microcephaly and severe developmental delayB B de Vries, W G van'tHoff, R A Surtees, et al.Pageof 23