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List of works by Norine Voisin

De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia

scientific article published on 10 February 2016

Excessive feedback of Cyp26a1 promotes cell non-autonomous loss of retinoic acid signaling.

scientific article published on 24 June 2015

Inflammatory myopathy in a patient with Aicardi-Goutières syndrome.

scientific article published on 9 January 2017

KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis ⬇️

scientific article published on 27 December 2017

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations

scientific article published on 15 November 2018

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Novel variants in GNAI3 associated with auriculocondylar syndrome strengthen a common dominant negative effect

scientific article

Pathogenic homozygous variant in POMK gene is the cause of prenatally detected severe ventriculomegaly in two Lithuanian families

scientific article published on 12 December 2019

Rare and de novo coding variants in chromodomain genes in Chiari I malformation

scientific article published on 14 December 2020

The association of severe encephalopathy and question mark ear is highly suggestive of loss of MEF2C function

scientific article

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