Search filters

List of works by Nathalie Van der Aa

A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP

scientific article

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

scientific article

Clinical delineation of the PACS1-related syndrome--Report on 19 patients

scientific article published on 3 February 2016

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

scientific article

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

scientific article published on 21 July 2015

Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disorders.

scientific article

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

scientific article

Platelet defects in congenital variant of Rett syndrome patients with FOXG1 mutations or reduced expression due to a position effect at 14q12.

scientific article published on May 2013

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism.

scientific article

Paulina is supported by:

About Paulina

Help