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List of works by Nadia Elkhartoufi

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

scientific article published on January 2014

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation

scientific article

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

scientific article

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes

scientific article

Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome

scientific article

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

scientific article

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders

scientific article published on 06 February 2013

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