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Conny M A van Ravenswaaij

Showing results (1-10 of 93) with videos related to

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European Journal of Medical Genetics|March 28, 2009
Emerging microdeletion and microduplication syndromes; the counseling paradigmConny M A van Ravenswaaij-Arts, Tjitske Kleefstra
JAMA Otolaryngology-- Head & Neck Surgery|February 28, 2017
Support for the Diagnosis of CHARGE SyndromeConny M A van Ravenswaaij-Arts, Kim Blake, Donna M Martin
International Journal of Cardiology. Heart & Vasculature|June 16, 2017
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidityNicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
Nederlands Tijdschrift Voor Geneeskunde|October 26, 2018
[The 46,XX male; a chromosomal form of a disorder of sex development]Margaretha M Visser, Helen L Lutgers, Conny M A van Ravenswaaij
European Journal of Human Genetics : EJHG|March 17, 2011
Clinical utility gene card for: CHARGE syndromeKim Blake, Conny M A van Ravenswaaij-Arts, Lies Hoefsloot, et al.
Journal of Genetic Counseling|September 30, 2010
Prevalence of genetic testing in CHARGE syndromeTimothy S Hartshorne, Kasee K Stratton, Conny M A van Ravenswaaij-Arts
Expert Review of Molecular Diagnostics|December 20, 2012
Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypesLies H Hoefsloot, Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts
European Journal of Medical Genetics|March 4, 2008
Question mark ears and post-auricular tagsErica H Gerkes, Conny M A van Ravenswaaij, Anthonie J van Essen
European Journal of Human Genetics : EJHG|February 19, 2015
Clinical utility gene card for: CHARGE syndrome - update 2015Conny M A van Ravenswaaij-Arts, Kim Blake, Lies Hoefsloot, et al.
Case Reports in Genetics|April 5, 2022
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia LentisJonas Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, et al.
Pageof 10

Showing results (1-10 of 93) with videos related to

Sort By:
Pageof 10
European Journal of Medical Genetics|March 28, 2009
Emerging microdeletion and microduplication syndromes; the counseling paradigmConny M A van Ravenswaaij-Arts, Tjitske Kleefstra
JAMA Otolaryngology-- Head & Neck Surgery|February 28, 2017
Support for the Diagnosis of CHARGE SyndromeConny M A van Ravenswaaij-Arts, Kim Blake, Donna M Martin
International Journal of Cardiology. Heart & Vasculature|June 16, 2017
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidityNicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
Nederlands Tijdschrift Voor Geneeskunde|October 26, 2018
[The 46,XX male; a chromosomal form of a disorder of sex development]Margaretha M Visser, Helen L Lutgers, Conny M A van Ravenswaaij
European Journal of Human Genetics : EJHG|March 17, 2011
Clinical utility gene card for: CHARGE syndromeKim Blake, Conny M A van Ravenswaaij-Arts, Lies Hoefsloot, et al.
Journal of Genetic Counseling|September 30, 2010
Prevalence of genetic testing in CHARGE syndromeTimothy S Hartshorne, Kasee K Stratton, Conny M A van Ravenswaaij-Arts
Expert Review of Molecular Diagnostics|December 20, 2012
Molecular studies of the CHD7 gene: an obligatory diagnostic step in an expanding range of clinical phenotypesLies H Hoefsloot, Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts
European Journal of Medical Genetics|March 4, 2008
Question mark ears and post-auricular tagsErica H Gerkes, Conny M A van Ravenswaaij, Anthonie J van Essen
European Journal of Human Genetics : EJHG|February 19, 2015
Clinical utility gene card for: CHARGE syndrome - update 2015Conny M A van Ravenswaaij-Arts, Kim Blake, Lies Hoefsloot, et al.
Case Reports in Genetics|April 5, 2022
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia LentisJonas Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, et al.
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