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	21.	Parenting Stress in CHARGE Syndrome and the Relationship with Child Characteristics. [electronic resource] by Wulffaert, Josette Scholte, Evert M Dijkxhoorn, Yvette M Bergman, Jorieke E H van Ravenswaaij-Arts, Conny M A van Berckelaer-Onnes, Ina A Publication details: Journal of developmental and physical disabilities Aug 2009 In: Journal of developmental and physical disabilities vol. 21 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	22.	Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities. [electronic resource] by Faas, Brigitte H W Nillesen, Willy Vermeer, Sascha Weghuis, Daniel Olde de Leeuw, Nicole Smits, Arie P T van Ravenswaaij-Arts, Conny M A Producer: 20090310 In: European journal of medical genetics vol. 51 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	23.	Genotype-phenotype mapping of chromosome 18q deletions by high-resolution array CGH: an update of the phenotypic map. [electronic resource] by Feenstra, Ilse Vissers, Lisenka E L M Orsel, Mirjam van Kessel, Ad Geurts Brunner, Han G Veltman, Joris A van Ravenswaaij-Arts, Conny M A Producer: 20071109 In: American journal of medical genetics. Part A vol. 143A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	24.	Guidelines in CHARGE syndrome and the missing link: Cranial imaging. [electronic resource] by de Geus, Christa M Free, Rolien H Verbist, Berit M Sival, Deborah A Blake, Kim D Meiners, Linda C van Ravenswaaij-Arts, Conny M A Producer: 20180621 In: American journal of medical genetics. Part C, Seminars in medical genetics vol. 175 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	25.	Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. [electronic resource] by Kalscheuer, Vera M Feenstra, Ilse Van Ravenswaaij-Arts, Conny M A Smeets, Dominique F C M Menzel, Corinna Ullmann, Reinhard Musante, Luciana Ropers, Hans-Hilger Producer: 20080903 In: American journal of medical genetics. Part A vol. 146A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	26.	Copy number variation in a hospital-based cohort of children with epilepsy. [electronic resource] by Vlaskamp, Danique R M Callenbach, Petra M C Rump, Patrick Giannini, Lucia A A Dijkhuizen, Trijnie Brouwer, Oebele F van Ravenswaaij-Arts, Conny M A Publication details: Epilepsia open 06 2017 In: Epilepsia open vol. 2 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	27.	Haploinsufficiency of the STX1B gene is associated with myoclonic astatic epilepsy. [electronic resource] by Vlaskamp, Danique R M Rump, Patrick Callenbach, Petra M C Vos, Yvonne J Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M A Brouwer, Oebele F Producer: 20161213 In: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	28.	Is there an effect of intranasal insulin on development and behaviour in Phelan-McDermid syndrome? A randomized, double-blind, placebo-controlled trial. [electronic resource] by Zwanenburg, Renée J Bocca, Gianni Ruiter, Selma A J Dillingh, Jan H Flapper, Boudien C T van den Heuvel, Edwin R van Ravenswaaij-Arts, Conny M A Producer: 20170711 In: European journal of human genetics : EJHG vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	29.	A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD). [electronic resource] by Jazayeri, Omid Liu, Xuanzhu van Diemen, Cleo C Bakker-van Waarde, Willie M Sikkema-Raddatz, Birgit Sinke, Richard J Zhang, Jianguo van Ravenswaaij-Arts, Conny M A Producer: 20161011 In: European journal of medical genetics vol. 58 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	30.	CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects. [electronic resource] by Corsten-Janssen, Nicole du Marchie Sarvaas, Gideon J Kerstjens-Frederikse, Wilhelmina S Hoefsloot, Lies H van Beynum, Ingrid M Kapusta, Livia van Ravenswaaij-Arts, Conny M A Producer: 20150710 In: American journal of medical genetics. Part A vol. 164A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	31.	The introduction of arrays in prenatal diagnosis: a special challenge. [electronic resource] by Vetro, Annalisa Bouman, Katelijne Hastings, Ros McMullan, Dominic J Vermeesch, Joris R Miller, Konstantin Sikkema-Raddatz, Birgit Ledbetter, David H Zuffardi, Orsetta van Ravenswaaij-Arts, Conny M A Producer: 20120906 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	32.	Mutation update on the CHD7 gene involved in CHARGE syndrome. [electronic resource] by Janssen, Nicole Bergman, Jorieke E H Swertz, Morris A Tranebjaerg, Lisbeth Lodahl, Marianne Schoots, Jeroen Hofstra, Robert M W van Ravenswaaij-Arts, Conny M A Hoefsloot, Lies H Producer: 20121128 In: Human mutation vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	33.	The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports. [electronic resource] by Engwerda, Aafke Frentz, Barbara den Ouden, A Lya Flapper, Boudien C T Swertz, Morris A Gerkes, Erica H Plantinga, Mirjam Dijkhuizen, Trijnie van Ravenswaaij-Arts, Conny M A Producer: 20190308 In: European journal of human genetics : EJHG vol. 26 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	34.	Immune Dysfunction in Children with CHARGE Syndrome: A Cross-Sectional Study. [electronic resource] by Wong, Monica T Y Lambeck, Annechien J A van der Burg, Mirjam la Bastide-van Gemert, Sacha Hogendorf, Lianne A van Ravenswaaij-Arts, Conny M A Schölvinck, Elisabeth H Producer: 20160617 In: PloS one vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	35.	An interstitial duplication of chromosome 13q31.3q32.1 further delineates the critical region for postaxial polydactyly type A2. [electronic resource] by van der Zwaag, Paul A Dijkhuizen, Trijnie Gerssen-Schoorl, Klasien B J Colijn, Anja W Broens, Paul M A Flapper, Boudien C T van Ravenswaaij-Arts, Conny M A Producer: 20100416 In: European journal of medical genetics vol. 53 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	36.	CHD7, the gene mutated in CHARGE syndrome, regulates genes involved in neural crest cell guidance. [electronic resource] by Schulz, Yvonne Wehner, Peter Opitz, Lennart Salinas-Riester, Gabriela Bongers, Ernie M H F van Ravenswaaij-Arts, Conny M A Wincent, Josephine Schoumans, Jacqueline Kohlhase, Jürgen Borchers, Annette Pauli, Silke Producer: 20140902 In: Human genetics vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	37.	Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. [electronic resource] by van Silfhout, Anneke T van den Akker, Peter C Dijkhuizen, Trijnie Verheij, Joke B G M Olderode-Berends, Maran J W Kok, Klaas Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M A Producer: 20100112 In: European journal of human genetics : EJHG vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	38.	The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome. [electronic resource] by Bergman, Jorieke E H de Ronde, Willem Jongmans, Marjolijn C J Wolffenbuttel, Bruce H R Drop, Sten L S Hermus, Ad Bocca, Gianni Hoefsloot, Lies H van Ravenswaaij-Arts, Conny M A Producer: 20120723 In: The Journal of clinical endocrinology and metabolism vol. 97 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	39.	Phenotypic spectrum of 20 novel patients with molecularly defined supernumerary marker chromosomes 15 and a review of the literature. [electronic resource] by Kleefstra, Tjitske de Leeuw, Nicole Wolf, Roy Nillesen, Willy M Schobers, Gaby Mieloo, Hanneke Willemsen, Marjolein Perrotta, Concetta Simona Poddighe, Pino J Feenstra, Ilse Draaisma, Jos van Ravenswaaij-Arts, Conny M A Producer: 20101215 In: American journal of medical genetics. Part A vol. 152A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	40.	Sema3a plays a role in the pathogenesis of CHARGE syndrome. [electronic resource] by Ufartes, Roser Schwenty-Lara, Janina Freese, Luisa Neuhofer, Christiane Möller, Janika Wehner, Peter van Ravenswaaij-Arts, Conny M A Wong, Monica T Y Schanze, Ina Tzschach, Andreas Bartsch, Oliver Borchers, Annette Pauli, Silke Producer: 20190208 In: Human molecular genetics vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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