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European Journal of Human Genetics : EJHG|June 21, 2007
Partial duplications of the ATRX gene cause the ATR-X syndromeBernard Thienpont, Thomy de Ravel, Hilde Van Esch, et al.Annales De Genetique|September 1, 2004
A familial complex chromosome translocation resulting in duplication of 6p25J R Vermeesch, R Thoelen, Jean Pierre FrynsGenome Medicine|July 31, 2010
Piecing together the problems in diagnosing low-level chromosomal mosaicismCaroline Robberecht, Jean-Pierre Fryns, Joris Robert VermeeschEuropean Journal of Human Genetics : EJHG|November 4, 2005
Carrier testing in minors: a systematic review of guidelines and position papersPascal Borry, Jean-Pierre Fryns, Paul Schotsmans, et al.American Journal of Human Genetics|May 7, 2002
Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndromeMaria Zeniou, Solange Pannetier, Jean-Pierre Fryns, et al.American Journal of Medical Genetics. Part A|December 12, 2002
A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with visual attention tasksJean Steyaert, Eric Legius, Martine Borghgraef, et al.American Journal of Medical Genetics. Part A|May 14, 2011
Toriello-Carey syndrome with a 6Mb interstitial deletion at 22q12 detected by array CGHEdith Said, Alfred Cuschieri, Joris Vermeesch, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2009
Diagnosis of miscarriages by molecular karyotyping: benefits and pitfallsCaroline Robberecht, Vicky Schuddinck, Jean-Pierre Fryns, et al.European Journal of Medical Genetics|February 24, 2009
Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndromeHilde Van Esch, Liesbeth Backx, Elly Pijkels, et al.European Journal of Medical Genetics|August 2, 2005
Follow-up of adult males with chromosome 18p deletionThomy J L de Ravel, Paul Thiry, Jean-Pierre FrynsPageof 25