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CHD7 / Chromosome 1 / Kallmann syndrome / Syndromes / Health / CHARGE syndrome


Professor Conny van Ravenswaaij-Arts My main research interests are CHARGE syndrome, rare chromosomal disorders and the use of new genome-wide techniques to identify genetic causes for intellectual disability. Content a
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Document Date: 2013-10-03 19:29:24

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Company

Genetic Services / European Journal / Permanent Working Group / Tussenbroek Fund / Orphanet / Journals / Meiners LC / John Wiley & Sons Ltd / /

Continent

Africa / /

Country

United States / Italy / Portugal / /

Facility

University of Groningen / University of Leiden / /

IndustryTerm

web-based database / diagnostic tool / /

MedicalCondition

microcephaly / Anosmia / JE / rare chromosomal disorders / Familial CHARGE syndrome / chromodomain gene family cause CHARGE syndrome / deletion syndrome / Phelan-McDermid syndrome / chromosome disorders / CHARGE syndrome / rare chromosome disorders / sexual developmental disorders / hypogonadotropic hypogonadism / Kallmann syndrome / CHARGElike syndrome / syndrome / disorders / /

Organization

European Cytogeneticists Association / American Society of Human Genetics / University of Leiden / European Society of Human Genetics / International CHARGE Foundation / Faculty of the European Course / Dutch Society of Paediatrics / Genetic Services Quality Committee / ESHG Genetic Services Quality Committee / Oxford University / University of Groningen / Dutch Society for Clinical Genetics / /

Person

I.B.M. Frye Stipend / Conny van Ravenswaaij-Arts / Albert Schinzel / Conny van Ravenswaaij-Arts My / /

Position

investigator / lecturer in the US / mouse model for CHARGE syndrome / Professor of Dysmorphology / Professor / speaker / chair / young investigator / Genet Counsel / associate editor / clinical genetics consultant / associate professor / chair of the project management board / /

PublishedMedium

the European Journal / /

RadioStation

Sloot AM / /

Technology

genotype / /

URL

www.ECARUCA.net / www.CHD7.org / http /

SocialTag