Résultat de recherche

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy...

AMPD2 regulates GTP synthesis and is mutated in a potentially treatable...

CLP1 founder mutation links tRNA splicing and maturation to cerebellar...

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus...

Cilia in hereditary cerebral anomalies.

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes...

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the...

4th year PhD & Imagine Thesis Award

A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated...

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

TCTN3 mutations cause Mohr-Majewski syndrome.

A neuropathological study of novel RTTN gene mutations causing a familial...

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

Loss of function IFT27 variants associated with an unclassified lethal...

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes...

Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria...

Identification of a novel ARL13B variant in a Joubert syndrome-affected...

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

Programs for integrating research and care

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking...