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University Medical Center Groningen

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

Clinical Geneticist, Professor in Dysmorphology
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Consensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22

Consensus recommendations on lymphedema in Phelan-McDermid syndrome

Consensus recommendations on organization of care for individuals with Phelan-McDermid syndrome

Definition and clinical variability of SHANK3-related Phelan-McDermid syndrome

Dissecting the 22q13 region to explore the genetic and phenotypic diversity of patients with Phelan-McDermid syndrome

Editorial: Towards a European consensus guideline for Phelan-McDermid syndrome

Models of KPTN-related disorder implicate mTOR signalling in cognitive and overgrowth phenotypes

Parental perspectives on Phelan-McDermid syndrome: Results of a worldwide survey

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

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Podcast: Convos with dr. Kate: Dr. Conny van Ravenswaaij - European Phelan-McDermid Syndrome Consortium

UMCGesprekken #8 Geen geld en geen patiënten voor onderzoek? Samen lukt het wel.

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Video chromosoom 6 Project

Interview with Conny van Ravenswaaij

Expertisecentra zeldzame aandoeningen: op weg naar Europees keurmerk

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