Résultat de recherche

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...

Programmes d’intégration recherche et soin

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

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

Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome...

Evolutionarily assembled cis-regulatory module at a human ciliopathy l...

Gene therapy rescues cilia defects and restores olfactory function in a...

BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and...

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

S'engager depuis l'étranger

Clinical spectrum and features of activated phosphoinositide 3-kinase δ...

Stages

Improving the diagnostic efficiency of primary immunodeficiencies with...

Disease Evolution and Response to Rapamycin in Activated Phosphoinositide...

Clinical spectrum and features of activated phosphoinositide 3-kinase δ...

Topoisomerase 2β mutation impairs early B-cell development.

From Dysgammaglobulinemia to Autosomal-Dominant Activation-Induced Cytidine...