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American Journal of Medical Genetics|June 1, 1994
Refined localization of the branchiootorenal syndrome gene by linkage and haplotype analysisL Ni, M J Wagner, W J Kimberling, et al.Clinical Dysmorphology|April 1, 1997
A syndrome of brachyphalangy, polydactyly and absent tibiaeM Baraitser, F Stewart, R M Winter, et al.Clinical Dysmorphology|April 1, 1996
An unusual presentation of Smith-Magenis syndrome with iris dysgenesisA J Barnicoat, H U Moller, R W Palmer, et al.Nature Genetics|September 1, 1994
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndromeW Reardon, R M Winter, P Rutland, et al.Clinical Dysmorphology|April 1, 1994
A case with blepharophimosis resembling Ohdo syndromeJ A Maat-Kievit, P J Milla, J E Collins, et al.Human Genetics|July 1, 1989
MASA syndrome: further clinical delineation and chromosomal localisationR M Winter, K E Davies, M V Bell, et al.Clinical Dysmorphology|May 29, 2000
Radial aplasia, poikiloderma and auto-immune enterocolitis--new syndrome or severe form of Rothmund-Thomson syndrome?Y Hilhorst-Hofstee, N Shah, D Atherton, et al.Clinical Dysmorphology|January 1, 1995
The natural history of human dermatosparaxis (Ehlers-Danlos syndrome type VIIC)W Reardon, R M Winter, L T Smith, et al.American Journal of Medical Genetics|October 1, 1994
New autosomal dominant form of spondyloepiphyseal dysplasia presenting with atlanto-axial instabilityW Reardon, C M Hall, D G Shaw, et al.Pageof 23