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	1.	Emerging microdeletion and microduplication syndromes; the counseling paradigm. [electronic resource] by van Ravenswaaij-Arts, Conny M A Kleefstra, Tjitske Producer: 20090901 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	2.	Growth in CHARGE syndrome: optimizing care with a multidisciplinary approach. [electronic resource] by Dijk, Dieuwerke R Bocca, Gianni van Ravenswaaij-Arts, Conny M Publication details: Journal of multidisciplinary healthcare 2019 In: Journal of multidisciplinary healthcare vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	3.	Support for the Diagnosis of CHARGE Syndrome. [electronic resource] by van Ravenswaaij-Arts, Conny M A Blake, Kim Martin, Donna M Producer: 20190130 In: JAMA otolaryngology-- head & neck surgery vol. 143 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	4.	Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity. [electronic resource] by Corsten-Janssen, Nicole van Ravenswaaij-Arts, Conny M A Kapusta, Livia Publication details: International journal of cardiology. Heart & vasculature Sep 2016 In: International journal of cardiology. Heart & vasculature vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	5.	Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypes. [electronic resource] by Hoefsloot, Lies H Corsten-Janssen, Nicole van Ravenswaaij-Arts, Conny M A Producer: 20130530 In: Expert review of molecular diagnostics vol. 12 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	6.	Clinical utility gene card for: CHARGE syndrome. [electronic resource] by Blake, Kim van Ravenswaaij-Arts, Conny M A Hoefsloot, Lies Verloes, Alain Producer: 20120103 In: European journal of human genetics : EJHG vol. 19 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	7.	Clinical utility gene card for: CHARGE syndrome - update 2015. [electronic resource] by van Ravenswaaij-Arts, Conny M A Blake, Kim Hoefsloot, Lies Verloes, Alain Producer: 20160506 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	8.	Prevalence of genetic testing in CHARGE syndrome. [electronic resource] by Hartshorne, Timothy S Stratton, Kasee K van Ravenswaaij-Arts, Conny M A Producer: 20110531 In: Journal of genetic counseling vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	9.	Study of smell and reproductive organs in a mouse model for CHARGE syndrome. [electronic resource] by Bergman, Jorieke E H Bosman, Erika A van Ravenswaaij-Arts, Conny M A Steel, Karen P Producer: 20100224 In: European journal of human genetics : EJHG vol. 18 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	10.	CHARGE syndrome: a review of the immunological aspects. [electronic resource] by Wong, Monica T Y Schölvinck, Elisabeth H Lambeck, Annechien J A van Ravenswaaij-Arts, Conny M A Producer: 20160506 In: European journal of human genetics : EJHG vol. 23 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	11.	Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome. [electronic resource] by Bergman, Jorieke E H Bocca, Gianni Hoefsloot, Lies H Meiners, Linda C van Ravenswaaij-Arts, Conny M A Producer: 20110405 In: The Journal of pediatrics vol. 158 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	12.	Duplication 2p25 in a child with clinical features of CHARGE syndrome. [electronic resource] by Sperry, Ethan D Schuette, Jane L van Ravenswaaij-Arts, Conny M A Green, Glenn E Martin, Donna M Producer: 20170104 In: American journal of medical genetics. Part A vol. 170A Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	13.	Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts. [electronic resource] by Wong, Monica T Y van Ravenswaaij-Arts, Conny M A Munns, Craig F Hsu, Peter Mehr, Sam Bocca, Gianni Producer: 20170615 In: The Journal of pediatrics vol. 176 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	14.	An analysis of body proportions in children with CHARGE syndrome using photogrammetric anthropometry. [electronic resource] by Penders, Bas Dijk, Dieuwerke R Bocca, Gianni Zimmermann, Luc J I van Ravenswaaij-Arts, Conny M A Gerver, Willem-Jan M Producer: 20200803 In: American journal of medical genetics. Part A vol. 179 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	15.	A unique 970kb microdeletion in 9q33.3, including the NR5A1 gene in a 46,XY female. [electronic resource] by van Silfhout, Anneke Boot, Annemieke M Dijkhuizen, Trijnie Hoek, Annemieke Nijman, Rien Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M A Producer: 20090901 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	16.	Developmental phenotype in Phelan-McDermid (22q13.3 deletion) syndrome: a systematic and prospective study in 34 children. [electronic resource] by Zwanenburg, Renée J Ruiter, Selma A J van den Heuvel, Edwin R Flapper, Boudien C T Van Ravenswaaij-Arts, Conny M A Producer: 20160427 In: Journal of neurodevelopmental disorders vol. 8 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	17.	Bilateral polymicrogyria as the indicative feature in a child with a 22q11.2 deletion. [electronic resource] by Gerkes, Erica H Hordijk, Roel Dijkhuizen, Trijnie Sival, Deborah A Meiners, Linda C Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M A Producer: 20110111 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)
	18.	Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome. [electronic resource] by Bergman, Jorieke E H de Wijs, Ilse Jongmans, Marjolijn C J Admiraal, Ronald J Hoefsloot, Lies H van Ravenswaaij-Arts, Conny M A Producer: 20081113 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)
	19.	The importance of chromosome studies in Roberts syndrome/SC phocomelia and other cohesinopathies. [electronic resource] by Gerkes, Erica H van der Kevie-Kersemaekers, Anne-Marie F Yakin, Mariam Smeets, Dominique F C M 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)
	20.	A 649 kb microduplication in 1p34.1, including POMGNT1, in a patient with microcephaly, coloboma and laryngomalacia; and a review of the literature. [electronic resource] by Hanemaaijer, Nicolien Dijkhuizen, Trijnie Haadsma, Maaike Boeve, Margot Boon, Maartje Hordijk, Roel Kok, Klaas Sikkema-Raddatz, Birgit van Ravenswaaij-Arts, Conny M A Producer: 20090901 In: European journal of medical genetics vol. 52 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 72 results.