Trisomy 18 presenting with severe limb deformationsWITTERS, Ingrid; FRYNS, Jean-Pierre.Prenatal diagnosis. 2008, Vol 28, Num 6, pp 549-550, issn 0197-3851, 2 p.Article

Psychiatric genetics: the case of single gene disordersSTEYAERT, Jean; FRYNS, Jean-Pierre.European child & adolescent psychiatry. 2002, Vol 11, Num 5, pp 201-209, issn 1018-8827, 9 p.Article

Angelman syndrome (AS, MIM 105830)VAN BUGGENHOUT, Griet; FRYNS, Jean-Pierre.European journal of human genetics. 2009, Vol 17, Num 11, pp 1367-1373, issn 1018-4813, 7 p.Article

Questionnaire X Fragile = Fragile X questionnaireFRYNS, Jean-Pierre; BORGHGRAEF, M.Rééducation orthophonique. 2001, Vol 39, Num 205, pp 151-163, issn 0034-222XArticle

Prenatal diagnosis of trisomy 17 mosaicismWITTERS, Ingrid; CANNIE, Mieke; FRYNS, Jean-Pierre et al.Prenatal diagnosis. 2007, Vol 27, Num 7, pp 677-678, issn 0197-3851, 2 p.Article

25 Mb deletion of 13q13.3q21.31 in a patient without retinoblastomaTHIENPONT, Bernard; VERMEESCH, Joris R; FRYNS, Jean-Pierre et al.European journal of medical genetics. 2005, Vol 48, Num 3, pp 363-366, issn 1769-7212, 4 p.Article

A familial complex chromosome translocation resulting in duplication of 6p25VERMEESCH, J. R; THOELEN, R; FRYNS, Jean Pierre et al.Annales de génétique (Paris). 2004, Vol 47, Num 3, pp 275-280, issn 0003-3995, 6 p.Article

Fetal akinesia deformation sequence: A study of 30 consecutive in utero diagnosesWITTERS, Ingrid; MOERMAN, Philippe; FRYNS, Jean-Pierre et al.American journal of medical genetics. 2002, Vol 113, Num 1, pp 23-28, issn 0148-7299, 6 p.Article

Toriello-Carey Syndrome With a 6Mb Interstitial Deletion at 22q12 Detected by Array CGHSAID, Edith; CUSCHIERI, Alfred; VERMEESCH, Joris et al.American journal of medical genetics. Part A. 2011, Vol 155, Num 6, pp 1390-1392, issn 1552-4825, 3 p.Article

Carrier testing in minors : a systematic review of guidelines and position papersBORRY, Pascal; FRYNS, Jean-Pierre; SCHOTSMANS, Paul et al.European journal of human genetics. 2006, Vol 14, Num 2, pp 133-138, issn 1018-4813, 6 p.Article

An unbalanced translocation 46,XX, +der(18)t(18;21)(q12.2;q11.2)mat, -21 associated with maternal isodisomy 18pter→18q12.2DE RAVEL, Thomy J. L; MATTHIJS, Gert; FRYNS, Jean-Pierre et al.Annales de génétique (Paris). 2001, Vol 44, Num 2, pp 63-66, issn 0003-3995Article

Prenatal diagnosis and pulmonary pathology in congenital high airway obstruction sequenceWITTERS, Ingrid; FRYNS, Jean-Pierre; DE CATTE, Luc et al.Prenatal diagnosis. 2009, Vol 29, Num 11, pp 1081-1084, issn 0197-3851, 4 p.Article

Follow-up of adult males with chromosome 18p deletionDE RAVEL, Thomy J. L; THIRY, Paul; FRYNS, Jean-Pierre et al.European journal of medical genetics. 2005, Vol 48, Num 2, pp 189-193, issn 1769-7212, 5 p.Article

Positive maternal serum triple test screening in severe early onset hypophosphatasiaWITTERS, Ingrid; MOERMAN, Philippe; MORNET, Etienne et al.Prenatal diagnosis. 2004, Vol 24, Num 7, pp 494-497, issn 0197-3851, 4 p.Article

Pervasive developmental disorders in prader-willi syndrome : The leuven experience in 59 subjects and controlsDESCHEEMAEKER, Mie-Jef; GOVERS, Veerle; VERMEULEN, Peter et al.American journal of medical genetics. Part A. 2006, Vol 140, Num 11, pp 1136-1142, issn 1552-4825, 7 p.Article

Pseudo-bartter syndrome due to hirschsprung disease in a neonate with an extra ring chromosome 8VANHAESEBROUCK, Sophie; VAN LAERE, David; FRYNS, Jean-Pierre et al.American journal of medical genetics. Part A. 2007, Vol 143, Num 20, pp 2469-2472, issn 1552-4825, 4 p.Article

Unusual splice-site mutations in the RSK2 gene and suggestion of genetic heterogeneity in Coffin-Lowry syndromeZENIOU, Maria; PANNETIER, Solange; FRYNS, Jean-Pierre et al.American journal of human genetics. 2002, Vol 70, Num 6, pp 1421-1433, issn 0002-9297Article

A male with two idic(Y)(q12) chromosomes : A distinct phenotype resembling the XXXY/XXXXY syndromeMAAS, Nicole M. C; VERMEESCH, Joris R; FRYNS, Jean-Pierre et al.American journal of medical genetics. 2005, Vol 138A, Num 3, pp 294-296, issn 0148-7299, 3 p.Article

A distinct neurocognitive phenotype in female fragile-X premutation carriers assessed with Visual attention TasksSTEYAERT, Jean; LEGIUS, Eric; BORGHGRAEF, Martine et al.American journal of medical genetics. 2003, Vol 116A, Num 1, pp 44-51, issn 0148-7299, 8 p.Article

Trisomy of chromosome 16pl3.3 due to an unbalanced insertional translocation into chromosome 22pl3DE RAVEL, Thomy; AERSSENS, Peter; VERMEESCH, Joris R et al.European journal of medical genetics. 2005, Vol 48, Num 3, pp 355-359, issn 1769-7212, 5 p.Article

A Microdeletion Proximal of the Critical Deletion Region Is Associated With Mild Wolf―Hirschhorn SyndromeHANNES, Femke; HAMMOND, Peter; QUARRELL, Oliver et al.American journal of medical genetics. Part A. 2012, Vol 158, Num 5, pp 996-1004, issn 1552-4825, 9 p.Article

The causality of de novo copy number variants is overestimatedVERMEESCH, Joris R; BALIKOVA, Irina; SCHRANDER-STUMPEL, Connie et al.European journal of human genetics. 2011, Vol 19, Num 11, pp 1112-1113, issn 1018-4813, 2 p.Article

Audiological outcomes after cochlear implantation in a patient with Melnick-Needles syndromeVERMEIREN, Annelies; ZAROWSKI, Andrzej; FRYNS, Jean-Pierre et al.Acta oto-laryngologica. 2008, Vol 128, Num 7, pp 814-820, issn 0001-6489, 7 p.Article

High frequency of iatrogenic monozygotic twins with administration of clomiphene citrate and a change in chorionicityDEROM, Catherine; LEROY, Fernand; VLIETINCK, Robert et al.Fertility and sterility. 2006, Vol 85, Num 3, pp 755-757, issn 0015-0282, 3 p.Article

Iris heterochromia: A variable feature in Verloes-Koulischer-oral-acral syndromeMATHIJSSEN, Inge B; FRYNS, Jean-Pierre; DEVRIENDT, Koen et al.American journal of medical genetics. 2005, Vol 132A, Num 3, pp 338-339, issn 0148-7299, 2 p.Article