Résultat de recherche

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite...

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause...

Journée des maladies Rares à Imagine

Autosomal recessive pathogenic MSTO1 variants in hereditary optic atro...

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic...

PCDH12 loss results in premature neuronal differentiation and impeded migration...

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children...

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.

Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite...

Compound heterozygosity for severe and hypomorphic NDUFS2 mutations cause...

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrom...

Identification of Greb1l as a genetic determinant of crisscross heart in...

Post-doctoral position in Asymmetric heart morphogenesis

NCBoost classifies pathogenic non-coding variants in Mendelian diseases...

Submicroscopic deletions at 13q32.1 cause congenital microcoria.

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

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

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Spastic paraplegia gene 7 in patients with spasticity and/or optic neu...

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