Résultat de recherche

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...

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...

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

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

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amauros...

The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Antonio Rausell

A link established between brain plasticity and improved social skills...

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction...

Genome editing approaches to β-hemoglobinopathies.