Conny M. Arts-Van Ravenswaaij

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 102 publications

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development.

Journal: The Journal of clinical investigation

Published: January 28, 2025

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Journal: American journal of medical genetics. Part A

Published: January 20, 2025

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Journal: Human mutation

Published: November 20, 2024

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

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

Journal: European journal of medical genetics

Published: February 22, 2023

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

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

Journal: European journal of medical genetics

Published: February 02, 2023

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

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

Journal: European journal of medical genetics

Published: December 12, 2022

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

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

Journal: European journal of medical genetics

Published: December 10, 2022

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

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

Journal: European journal of medical genetics

Published: December 09, 2022

The role of TBX18 in congenital heart defects in humans not confirmed.

The role of TBX18 in congenital heart defects in humans not confirmed.

Journal: European journal of human genetics : EJHG

Published: November 07, 2022

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

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

Journal: Brain : a journal of neurology

Published: November 02, 2022

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

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

Journal: Orphanet journal of rare diseases

Published: November 01, 2022

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

Journal: Orphanet journal of rare diseases

Published: October 31, 2022

Showing 1-12 of 102

Last Updated: 09/26/2026