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Genetic Counseling (Geneva, Switzerland)|January 1, 1991
Distal arthrogryposis, specific facial dysmorphism and psychomotor retardation: a recognizable entity in surviving patients with the fetal akinesia deformation sequenceC T Schrander-Stumpel, J P Fryns, J J Schrander, et al.
European Journal of Pediatrics|March 1, 1979
18q- syndrome in mother and daughterJ P Fryns, N Logghe, M van Eygen, et al.
Journal of Inherited Metabolic Disease|January 1, 1996
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase geneJ Jaeken, N Goemans, J P Fryns, et al.
Human Genetics|June 10, 1977
Partial trisomy 14q due to familial t(14q-,11q+) translocationJ P Fryns, M Van Eygen, W Tanghe, et al.
Genetic Counseling (Geneva, Switzerland)|January 1, 1990
On the nosology of moderate mental retardation with special attention to X-linked mental retardation. A diagnostic genetic survey of 274 institutionalized moderately mentally retarded menP Volcke, A M Dereymaeker, J P Fryns, et al.
Fertility and Sterility|July 19, 2000
Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injectionA Schreurs, E Legius, C Meuleman, et al.
European Journal of Pediatrics|August 1, 1984
Calcification of cartilages, brachytelephalangy and peripheral pulmonary stenosis. Confirmation of the Keutel syndromeJ P Fryns, A van Fleteren, P Mattelaer, et al.
Genetic Counseling (Geneva, Switzerland)|November 2, 2005
Partial trisomy 11q syndrome (11q23.1-->11qter) due to de novo t (11q; 13q) detected by multicolor fluorescence in situ hybridisationG E Utine, R Thoelen, H Peeters, et al.
Genetic Counseling (Geneva, Switzerland)|February 21, 2014
Congenital High Airway Obstruction Syndrome (CHAOS) as part of Fraser syndrome: ultrasound and autopsy findingsT Mesens, I Witters, J Van Robaeys, et al.
American Journal of Medical Genetics|July 15, 1994
Longitudinal changes in IQ among fragile X females: a preliminary multicenter analysisG S Fisch, R Simensen, T Arinami, et al.
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