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Prenatal Diagnosis|November 11, 2010
Targeted array comparative genomic hybridisation (array CGH) identifies genomic imbalances associated with isolated congenital diaphragmatic hernia (CDH)Kasemsri Srisupundit, Paul D Brady, Koenraad Devriendt, et al.
European Journal of Human Genetics : EJHG|October 16, 2003
Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patientsAlfredo Orrico, Lucia Galli, Maria Luigia Cavaliere, et al.
Journal of Pediatric Surgery|February 17, 2006
Current consequences of prenatal diagnosis of congenital diaphragmatic herniaJan Deprest, Jacques Jani, Dominique Van Schoubroeck, et al.
Trends in Genetics : TIG|June 13, 2003
Nonsyndromic X-linked mental retardation: where are the missing mutations?Hans-Hilger Ropers, Maria Hoeltzenbein, Vera Kalscheuer, et al.
American Journal of Medical Genetics. Part A|January 22, 2004
Prader-Willi syndrome: causes of death in an international series of 27 casesConstance Th R M Schrander-Stumpel, Leopold M G Curfs, Prapto Sastrowijoto, et al.
Journal of Medical Genetics|December 19, 2006
Molecular characterisation of a mosaicism with a complex chromosome rearrangement: evidence for coincident chromosome healing by telomere capture and neo-telomere formationElyes Chabchoub, Laura Rodríguez, Enrique Galán, et al.
European Journal of Human Genetics : EJHG|October 16, 2004
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxiaHilde Van Esch, Rene Dom, Dorien Bex, et al.
Human Reproduction (Oxford, England)|July 28, 2009
What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rateEvelyne Vanneste, Thierry Voet, Cindy Melotte, et al.
Human Mutation|June 5, 2007
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genesGuy Froyen, Hilde Van Esch, Marijke Bauters, et al.
European Journal of Human Genetics : EJHG|February 10, 2007
Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autismDries Castermans, Joris R Vermeesch, Jean-Pierre Fryns, et al.
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