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American Journal of Medical Genetics|September 1, 1990
Limb reduction defects and renal dysplasia: confirmation of a new, apparently lethal, autosomal recessive MCA syndromeC Schrander-Stumpel, C de Die-Smulders, J P Fryns, et al.
Journal of Medical Genetics|July 1, 1997
Phosphoserine phosphatase deficiency in a patient with Williams syndromeJ Jaeken, M Detheux, J P Fryns, et al.
Human Genetics|October 1, 1979
Primary mesodermal dysgenesis of the cornea (Peters' anomaly) in two brothersM Boel, J Timmermans, L Emmery, et al.
Clinical Genetics|February 1, 1989
Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patientsK H Chrzanowska, J P Fryns, M Krajewska-Walasek, et al.
Journal of Medical Genetics|August 6, 2002
PTPN11 mutations in LEOPARD syndromeE Legius, C Schrander-Stumpel, E Schollen, et al.
Clinical Genetics|May 1, 1988
Partial trisomy 20q due to paternal t(8;20) translocation. Case report and review of the literatureG Pierquin, C Herens, P Dodinval, et al.
Annales De Genetique|January 1, 1986
Partial distal 6p trisomy in a malformed fetusJ P Fryns, A Kleczkowska, F Moerman, et al.
Annales De Genetique|January 1, 1980
Triploid-diploid mosaïcism in a deeply mentally retarded adultJ P Fryns, L Vinken, J Geutjens, et al.
Genetic Counseling (Geneva, Switzerland)|July 23, 2003
Prenatal diagnosis of trisomy 12 mosaicism: normal development of a 3 years old female childJ E A Staals, C T R M Schrander-Stumpel, G Hamers, et al.
Genetic Counseling (Geneva, Switzerland)|April 7, 1999
The behavioural phenotype in velo-cardio-facial syndrome (VCFS): from infancy to adolescenceA Swillen, K Devriendt, E Legius, et al.
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