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How to find us prof. dr. C.M.A. (Conny M.A.) van Ravenswaaij-Arts
University Medical Center Groningen

prof. dr. C.M.A. (Conny M.A.) van Ravenswaaij-Arts

Clinical Geneticist, Professor in Dysmorphology
prof. dr. C.M.A. (Conny M.A.) van Ravenswaaij-Arts
E-mail:
c.m.a.van.ravenswaaij umcg.nl

Publications

Approach to diagnosing a pediatric patient with severe insulin resistance in low- or middle-income countries

Changes in empowerment and anxiety of patients and parents during genetic counselling for epilepsy

CHARGE syndrome and related disorders: A mechanistic link

DLG4-related synaptopathy: a new rare brain disorder

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype

Neurodegenerative VPS41 variants inhibit HOPS function and mTORC1-dependent TFEB/TFE3 regulation

Puberty induction in boys with CHARGE syndrome and hypogonadism: Experiences of patients and parents

TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility

A child with complementary mosaic trisomy 8 and mosaic trisomy 21; clinical description of Warkany-Down syndrome and mechanism of origin

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Press/media

Zorgen voor Indy

Video chromosoom 6 Project

Interview with Conny van Ravenswaaij

Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk

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