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Genetic Counseling (Geneva, Switzerland)|January 1, 1991
Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes?I Casteels, A Wijnants, P Casaer, et al.
American Journal of Medical Genetics|January 1, 1986
Partial fra(X) phenotype with megalotestes in fra (X)-negative patients with acquired lesions of the central nervous systemJ P Fryns, A Dereymaeker, M Hoefnagels, et al.
Molecular Syndromology|August 3, 2012
NRAS Mutations in Noonan SyndromeE Denayer, H Peeters, L Sevenants, et al.
Cytogenetics and Cell Genetics|August 6, 1998
Chromosome healing of constitutional chromosome deletions studied by microdissectionJ R Vermeesch, D Falzetti, G Van Buggenhout, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1993
VACTERL with hydrocephalus. A distinct entity with a variable spectrum of multiple congenital anomaliesK Vandenborre, F Beemer, J P Fryns, et al.
Annales De Genetique|May 26, 1998
Unusual de novo t(13;15)(q12.1;p13) translocation leading to complex mosaicism including jumping translocationP Petit, K Devriendt, J R Vermeesch, et al.
Annales De Genetique|January 1, 1987
Distinct dysmorphic syndrome in a child with inverted distal 5q duplicationJ P Fryns, A Kleczkowska, M Borghgraef, et al.
Genetic Counseling (Geneva, Switzerland)|April 7, 1999
Retrospective analysis of feeding and speech disorders in 50 patients with velo-cardio-facial syndromeN Rommel, G Vantrappen, A Swillen, et al.
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