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Authors whose works are in public domain in at least one jurisdiction

List of works by Nathalie Delphin

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

scientific article published on 30 November 2011

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

scientific article published in December 2007

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

Population history and infrequent mutations: how old is a rare mutation? GUCY2D as a worked example

scientific article published on 8 August 2007

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

scientific article published in March 2010

TMEM126A is a mitochondrial located mRNA (MLR) protein of the mitochondrial inner membrane

scientific article published on 13 March 2013

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy

scientific article

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