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

Research Acceleration

07/11/2023

A new genetic disease linked to the X chromosome explains immunity problems...
Publications

medRxiv
Publications

TUBB4B variants specifically impact ciliary function, causing a ciliopathic...
Web pages

Care

14/11/2019

What is a genetic test ?
Publications

TUBB4B variants specifically impact ciliary function, causing a ciliopathic...
Publications

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

Impaired complex I repair causes recessive Leber's hereditary optic ne...
Publications

YIF1B mutations cause a post-natal neurodevelopmental syndrome associated...
Publications

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

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

Reply: The expanding neurological phenotype of DNM1L-related disorders...
Publications

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

Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Publications

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

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

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

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

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

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