Recherche
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CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease
(European Journal of Medical Genetics. vol. 64, n° 4, 2021-04)Article de revue -
A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum
(Human Genetics. vol. 140, n° 6, pp. 933-944, 2021)Article de revue -
De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability
Document de travail - Pré-publicationLibre accès -
Oculo-auriculo-vertebral spectrum: new genes and literature review on a complex disease.
(Journal of Medical Genetics. vol. 59, n° 5, pp. 417-427, 2022-05-01)Article de revue -
Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders.
(European Journal of Human Genetics, 2023-10-23)Article de revueLibre accès