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Developmental Medicine and Child Neurology|April 1, 1991
Clinical and chromosome studies of three patients with Smith-Magenis syndromeJ F de Rijk-van Andel, C E Catsman-Berrevoets, J O van Hemel, et al.
Journal of Medical Genetics|August 1, 1995
Recurrence of DiGeorge syndrome: prenatal detection by FISH of a molecular 22q11 deletionJ O Van Hemel, C Schaap, D Van Opstal, et al.
Human Genetics|January 1, 1982
Ring chromosome 2: clinical, chromosomal, and biochemical aspectsM Jansen, F A Beemer, C van der Heiden, et al.
Genetic Counseling (Geneva, Switzerland)|April 7, 1999
Chromosome 22q11 deletions in patients with selected outflow tract malformationsI M Frohn-Mulder, E Wesby Swaay, C Bouwhuis, et al.
Human Reproduction (Oxford, England)|August 1, 1997
Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injectionP A Veld, R F Weber, F J Los, et al.
American Journal of Medical Genetics|February 1, 1991
Mapping of a new RFLP marker RN1 (DXS369) close to the fragile site FRAXA on Xq27-q28B A Oostra, D F Majoor-Krakauer, J O van Hemel, et al.
American Journal of Medical Genetics|September 1, 1991
DNA analysis in patients with lissencephaly type I and other cortical dysplasiasB A Oostra, J F de Rijk-van Andel, H J Eussen, et al.
Lancet (London, England)|April 11, 1992
Avoidance of emergency surgery in newborn infants with trisomy 18A P Bos, C J Broers, F W Hazebroek, et al.
American Journal of Medical Genetics|August 9, 1996
The fragile X phenotype in a mosaic male with a deletion showing expression of the FMR1 protein in 28% of the cellsE de Graaff, B B de Vries, R Willemsen, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|October 6, 1999
CHARGE association-related ocular pathology in a newborn with partial trisomy 19q and partial monosomy 21q, from a maternal translocation (19;21) (q13.1;q22.3)R R De Krijger, C M Mooy, J O Van Hemel, et al.
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