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List of works by Conny M A van Ravenswaaij-Arts

Clinical and cytogenetic characterization of 13 Dutch patients with deletion 9p syndrome: Delineation of the critical region for a consensus phenotype

scientific article published in June 2008

Copy number variation in a hospital-based cohort of children with epilepsy.

scientific article published on 8 May 2017

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations

scientific article published on 27 January 2016

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome

scientific article

Definition of 5q11.2 microdeletion syndrome reveals overlap with CHARGE syndrome and 22q11 deletion syndrome phenotypes

Diagnostic genome profiling in mental retardation

scientific article

Disruption of teashirt zinc finger homeobox 1 is associated with congenital aural atresia in humans

scientific article

Genotype–phenotype mapping of chromosome 18q deletions by high-resolution array CGH: An update of the phenotypic map

scientific article published on 01 August 2007

Guidelines in CHARGE syndrome and the missing link: Cranial imaging.

scientific article published on 23 November 2017

Haploinsufficiency of MeCP2-interacting transcriptional co-repressor SIN3A causes mild intellectual disability by affecting the development of cortical integrity.

scientific article published on 11 July 2016

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

article

Reply to Sajantila and Budowle

scientific article published on 14 January 2015

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

scientific article

The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

scientific article published on 08 June 2018

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