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Prenatal Diagnosis|January 12, 2002
Split-hand/split-foot malformation with paternal mutation in the p63 geneI Witters, H Van Bokhoven, A Goossens, et al.Human Genetics|January 27, 2000
Multiple small accessory marker chromosomes from different centromeric origin in a moderately mentally retarded maleJ R Vermeesch, H Duhamel, P Petit, et al.Genetic Counseling (Geneva, Switzerland)|January 23, 1999
Skin pigment anomalies and mosaicism for a double autosomal trisomy (48,XX,+18,+20)K Devriendt, G Matthijs, J Meireleire, et al.Journal of Medical Genetics|April 1, 1995
Encephalocraniocutaneous lipomatosis with a mutation in the NF1 geneE Legius, R Wu, M Eyssen, et al.American Journal of Diseases of Children (1960)|September 1, 1984
Bloom's syndrome. Possible pitfalls in clinical diagnosisM Vanderschueren-Lodeweyckx, J P Fryns, H Van den Berghe, et al.Journal of Mental Deficiency Research|February 1, 1990
A genetic diagnostic survey in an institutionalized population of 262 moderately mentally retarded patients: the Borgerstein experienceJ P Fryns, P H Volcke, M Haspeslagh, et al.European Journal of Pediatrics|September 1, 1980
Deletion of the short arm of chromosome 9. A clinically recognisable entityJ P Fryns, J C Pedersen, H Duyck, et al.Annales De Genetique|January 1, 1980
De novo paracentric inversion in a microcephalic boy: 46,XY, inv(14)(q13q24)J Jaeken, J P Fryns, L Standaert, et al.Annales De Genetique|January 1, 1982
Ring chromosome 14 syndromeJ P Fryns, P Petit, A Kleczkowska, et al.Journal of Medical Genetics|June 1, 1993
Severe intrauterine growth retardation, blepharophimosis, and cylindrical nose with midline groove: a new syndrome?C E de Die-Smulders, R P Droog, M van Dijk, et al.Pageof 89