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International Journal of Cardiology. Heart & Vasculature
|
June 16, 2017
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
Journal of Genetic Counseling
|
September 30, 2010
Prevalence of genetic testing in CHARGE syndrome
Timothy S Hartshorne, Kasee K Stratton, Conny M A van Ravenswaaij-Arts
Case Reports in Genetics
|
April 5, 2022
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Jonas Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, et al.
European Journal of Human Genetics : EJHG
|
October 8, 2009
Study of smell and reproductive organs in a mouse model for CHARGE syndrome
Jorieke E H Bergman, Erika A Bosman, Conny M A van Ravenswaaij-Arts, et al.
Orphanet Journal of Rare Diseases
|
March 20, 2023
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2015
CHARGE syndrome: a review of the immunological aspects
Monica T Y Wong, Elisabeth H Schölvinck, Annechien J A Lambeck, et al.
American Journal of Medical Genetics. Part A
|
February 7, 2016
Duplication 2p25 in a child with clinical features of CHARGE syndrome
Ethan D Sperry, Jane L Schuette, Conny M A van Ravenswaaij-Arts, et al.
The Journal of Pediatrics
|
October 2, 2010
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome
Jorieke E H Bergman, Gianni Bocca, Lies H Hoefsloot, et al.
Orphanet Journal of Rare Diseases
|
March 25, 2023
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Eleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz, et al.
The Journal of Pediatrics
|
June 21, 2016
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts
Monica T Y Wong, Conny M A van Ravenswaaij-Arts, Craig F Munns, et al.
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of 8
Search research articles
Search
Showing results (1-10 of 78) with videos related to
Sort By:
Page
of 8
International Journal of Cardiology. Heart & Vasculature
|
June 16, 2017
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity
Nicole Corsten-Janssen, Conny M A van Ravenswaaij-Arts, Livia Kapusta
Journal of Genetic Counseling
|
September 30, 2010
Prevalence of genetic testing in CHARGE syndrome
Timothy S Hartshorne, Kasee K Stratton, Conny M A van Ravenswaaij-Arts
Case Reports in Genetics
|
April 5, 2022
Mechanism of Disease: Recessive ADAMTSL4 Mutations and Craniosynostosis with Ectopia Lentis
Jonas Gustafson, Maria Bjork, Conny M A van Ravenswaaij-Arts, et al.
European Journal of Human Genetics : EJHG
|
October 8, 2009
Study of smell and reproductive organs in a mouse model for CHARGE syndrome
Jorieke E H Bergman, Erika A Bosman, Conny M A van Ravenswaaij-Arts, et al.
Orphanet Journal of Rare Diseases
|
March 20, 2023
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, et al.
European Journal of Human Genetics : EJHG
|
February 19, 2015
CHARGE syndrome: a review of the immunological aspects
Monica T Y Wong, Elisabeth H Schölvinck, Annechien J A Lambeck, et al.
American Journal of Medical Genetics. Part A
|
February 7, 2016
Duplication 2p25 in a child with clinical features of CHARGE syndrome
Ethan D Sperry, Jane L Schuette, Conny M A van Ravenswaaij-Arts, et al.
The Journal of Pediatrics
|
October 2, 2010
Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome
Jorieke E H Bergman, Gianni Bocca, Lies H Hoefsloot, et al.
Orphanet Journal of Rare Diseases
|
March 25, 2023
The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review
Eleana Rraku, Wilhelmina S Kerstjens-Frederikse, Morris A Swertz, et al.
The Journal of Pediatrics
|
June 21, 2016
Central Adrenal Insufficiency Is Not a Common Feature in CHARGE Syndrome: A Cross-Sectional Study in 2 Cohorts
Monica T Y Wong, Conny M A van Ravenswaaij-Arts, Craig F Munns, et al.
Page
of 8