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Journal of Medical Genetics|March 1, 1995
Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further familiesA O Wilkie, S P Yang, D Summers, et al.Journal of Medical Genetics|April 1, 1995
Alagille syndrome: family studiesF V Elmslie, A J Vivian, H Gardiner, et al.American Journal of Human Genetics|July 1, 1992
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3)I Bach, H G Brunner, P Beighton, et al.Nature Genetics|May 20, 1998
Association of the INS VNTR with size at birth. ALSPAC Study Team. Avon Longitudinal Study of Pregnancy and ChildhoodD B Dunger, K K Ong, S J Huxtable, et al.Human Genetics|January 5, 2001
Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-NielsenJ Tyson, L Tranebjaerg, M McEntagart, et al.Human Molecular Genetics|July 1, 1994
X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletionsI Huber, M Bitner-Glindzicz, Y J de Kok, et al.Clinical Dysmorphology|June 20, 2002
Hemifacial microsomia, external auditory canal atresia, deafness and Mullerian anomalies associated with acro-osteolysis: a new autosomal recessive syndrome?A F Brady, R M Winter, L C Wilson, et al.Nature Genetics|February 1, 1995
The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardationJ Flint, A O Wilkie, V J Buckle, et al.Clinical Science (London, England : 1979)|April 1, 1984
Polymorphisms in the 5'-flanking region of the insulin gene and non-insulin-dependent diabetesG A Hitman, N I Jowett, L G Williams, et al.Clinical Dysmorphology|August 24, 2000
An unknown combination of infantile spasms, retinal lesions, facial dysmorphism and limb abnormalitiesA S Plomp, W Reardon, S Benton, et al.Pageof 23