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	1021.	The neurobeachin gene is disrupted by a translocation in a patient with idiopathic autism. [electronic resource] by Castermans, D Wilquet, V Parthoens, E Huysmans, C Steyaert, J Swinnen, L Fryns, J-P Van de Ven, W Devriendt, K Producer: 20030805 In: Journal of medical genetics vol. 40 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1022.	Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12). [electronic resource] by Moog, U Engelen, J J Weber, B W Van Gelderen, M Steyaert, J Baas, F Sijstermans, H M Fryns, J P Producer: 20040720 In: Genetic counseling (Geneva, Switzerland) vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	1023.	Molecular karyotyping of patients with MCA/MR: the blurred boundary between normal and pathogenic variation. [electronic resource] by de Ravel, T J L Balikova, I Thienpont, B Hannes, F Maas, N Fryns, J-P Devriendt, K Vermeesch, J R Producer: 20061212 In: Cytogenetic and genome research vol. 115 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1024.	Holoprosencephaly: the Maastricht experience. [electronic resource] by Moog, U De Die-Smulders, C E Schrander-Stumpel, C T Engelen, J J Hamers, A J Frints, S Fryns, J P Producer: 20020213 In: Genetic counseling (Geneva, Switzerland) vol. 12 Availability: No items available. Save to lists Add to cart (remove)
	1025.	Trisomy 15 rescue with jumping translocation of distal 15q in Prader-Willi syndrome. [electronic resource] by Devriendt, K Petit, P Matthijs, G Vermeesch, J R Holvoet, M De Muelenaere, A Marynen, P Cassiman, J J Fryns, J P Producer: 19970716 In: Journal of medical genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1026.	Isolation of cosmids corresponding to the chromosome breakpoints of a de novo autosomal translocation, t(6;19)(p21;q13.1), in a patient with multicystic renal dysplasia. [electronic resource] by Groenen, P M Garcia, E Thoelen, R Aly, M Schoenmakers, E F Devriendt, K Fryns, J P Van de Ven, W J Producer: 19970417 In: Cytogenetics and cell genetics vol. 75 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1027.	Polyhydramnios as a prenatal symptom of the digeorge/velo-cardio-facial syndrome. [electronic resource] by Devriendt, K Van Schoubroeck, D Eyskens, B Vantrappen, G Swillen, A Gewillig, M Dumoulin, M Moerman, P Vandenberghe, K Fryns, J P Producer: 19980319 In: Prenatal diagnosis vol. 18 Availability: No items available. Save to lists Add to cart (remove)
	1028.	Cerebro-costo-mandibular syndrome: a follow-up study with 6 patients. [electronic resource] by Schrander-Stumpel, C van der Meer, S De Die-Smulders, C Meinecke, P Rupprecht, E Maroteaux, P Schrander, J Fryns, J P Producer: 19960731 In: Genetic counseling (Geneva, Switzerland) vol. 7 Availability: No items available. Save to lists Add to cart (remove)
	1029.	Restrictive dermopathy with distinct morphological abnormalities. [electronic resource] by Van Hoestenberghe, M Legius, E Vandevoorde, W Eykens, A Jaeken, J Eggermont, E Devos, R De Wolf-Peeters, C Fryns, J P Producer: 19900808 In: American journal of medical genetics vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1030.	Central nervous system malformations and early end-stage renal disease in oro-facio-digital syndrome type I: a review. [electronic resource] by Odent, S Le Marec, B Toutain, A David, A Vigneron, J Tréguier, C Jouan, H Milon, J Fryns, J P Verloes, A Producer: 19980326 In: American journal of medical genetics vol. 75 Availability: No items available. Save to lists Add to cart (remove)
	1031.	Parental mosaicism of JAG1 mutations in families with Alagille syndrome. [electronic resource] by Giannakudis, J Röpke, A Kujat, A Krajewska-Walasek, M Hughes, H Fryns, J P Bankier, A Amor, D Schlicker, M Hansmann, I Producer: 20010621 In: European journal of human genetics : EJHG vol. 9 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1032.	Partial DiGeorge syndrome in two patients with a 10p rearrangement. [electronic resource] by Van Esch, H Groenen, P Daw, S Poffyn, A Holvoet, M Scambler, P Fryns, J P Van de Ven, W Devriendt, K Producer: 19990716 In: Clinical genetics vol. 55 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1033.	Simultaneous measurement, using flow cytometry, of radiosensitivity and defective mitogen response in ataxia telangiectasia and related syndromes. [electronic resource] by Seyschab, H Schindler, D Friedl, R Barbi, G Boltshauser, E Fryns, J P Hanefeld, F Korinthenberg, R Krägeloh-Mann, I Scheres, J M Producer: 19921208 In: European journal of pediatrics vol. 151 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1034.	Predictive and preimplantation genetic testing for Huntington's disease and other late onset dominant disorders: not in conflict but complementary. [electronic resource] by Evers-Kiebooms, G Fryns, J P Demyttenaere, K Decruyenaere, M Boogaerts, A Cloostermans, T Cassiman, J J Dom, R Van den Berghe, H Producer: 19970326 In: Clinical genetics vol. 50 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1035.	Limited expansion of the (CAG)n repeat of the Huntington gene: a premutation (?). [electronic resource] by Legius, E Cuppens, H Dierick, H Van Zandt, K Dom, R Fryns, J P Evers-Kiebooms, G Decruyenaere, M Demyttenaere, K Marynen, P Producer: 19940830 In: European journal of human genetics : EJHG vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1036.	Non-participation in predictive testing for Huntington's disease: individual decision-making, personality and avoidant behaviour in the family. [electronic resource] by Decruyenaere, M Evers-Kiebooms, G Boogaerts, A Cloostermans, T Cassiman, J J Demyttenaere, K Dom, R Fryns, J P Van den Berghe, H Producer: 19980317 In: European journal of human genetics : EJHG vol. 5 Availability: No items available. Save to lists Add to cart (remove)
	1037.	Parenting, family contexts, and personality characteristics in youngsters with VCFS. [electronic resource] by Prinzie, P Swillen, A Maes, B Onghena, P Vogels, A Van Hooste, A Devriendt, K Van Lieshout, C F M Fryns, J P Producer: 20041014 In: Genetic counseling (Geneva, Switzerland) vol. 15 Availability: No items available. Save to lists Add to cart (remove)
	1038.	Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. [electronic resource] by Witt, D R Hoyme, H E Zonana, J Manchester, D K Fryns, J P Stevenson, J G Curry, C J Hall, J G Producer: 19880128 In: American journal of medical genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1039.	Prenatal diagnosis of homozygous familial hypercholesterolaemia. Expression of a genetic receptor disease in utero. [electronic resource] by Brown, M S Kovanen, P T Goldstein, J L Eeckels, R Vandenberghe, K van den Berghe, H Fryns, J P Cassiman, J J Producer: 19780517 In: Lancet (London, England) vol. 1 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	1040.	Predictive testing for Huntington's disease: risk perception, reasons for testing and psychological profile of test applicants. [electronic resource] by Decruyenaere, M Evers-Kiebooms, G Boogaerts, A Cassiman, J J Cloostermans, T Demyttenaere, K Dom, R Fryns, J P Van den Berghe, H Producer: 19950802 In: Genetic counseling (Geneva, Switzerland) vol. 6 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 1120 results.