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Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset...

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital...

Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1...

Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic...

Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated...

Description of Two Siblings with Apparently Severe CEP290 Mutations and...

Basal exon skipping and nonsense-associated altered splicing allows bypassing...

Whole-genome sequencing in patients with ciliopathies uncovers a novel...

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

An update on research on epilepsies

Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary...

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release...

IFT81, encoding an IFT-B core protein, as a very rare cause of a ciliopathy...

Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate...

Mutations in DOCK7 in individuals with epileptic encephalopathy and cortical...

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring...

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe...

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive...