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Human Molecular Genetics|July 1, 1997
The oral-facial-digital syndrome type 1 (OFD1), a cause of polycystic kidney disease and associated malformations, maps to Xp22.2-Xp22.3S A Feather, A S Woolf, D Donnai, 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.American Journal of Medical Genetics|February 15, 1992
Recurrent Wiedemann-Beckwith syndrome with inversion of chromosome (11)(p11.2p15.5)A M Norman, A P Read, J Clayton-Smith, et al.American Journal of Medical Genetics|May 15, 1994
Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)L O Langer, R J Gorlin, D Donnai, et al.Journal of Medical Genetics|March 1, 1993
Refining the genetic location of the gene for X linked hydrocephalus within Xq28M Jouet, E Feldman, J Yates, et al.American Journal of Human Genetics|July 1, 1991
The gene for Treacher Collins syndrome maps to the long arm of chromosome 5M J Dixon, A P Read, D Donnai, et al.Journal of Medical Genetics|July 1, 1993
Neurofibromatosis type 1 (NF1): knowledge, experience, and reproductive decisions of affected patients and familiesC M Benjamin, A Colley, D Donnai, et al.American Journal of Medical Genetics|September 11, 1995
Geleophysic dysplasia: a report of three affected boys--prenatal ultrasound does not detect recurrenceE M Rosser, A R Wilkinson, J A Hurst, et al.Ophthalmology|November 26, 1999
A novel hereditary developmental vitreoretinopathy with multiple ocular abnormalities localizing to a 5-cM region of chromosome 5q13-q14G C Black, R Perveen, W Wiszniewski, et al.American Journal of Human Genetics|July 1, 1993
Tandem duplication within a neurofibromatosis type 1 (NF1) gene exon in a family with features of Watson syndrome and Noonan syndromeM Tassabehji, T Strachan, M Sharland, et al.Pageof 13