List of works - Nicolas Chassaing - Paulina

List of works by Nicolas Chassaing

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium

scientific article published on January 2014

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials

scientific article published on 07 January 2021

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

scientific article published in January 2011

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