Résultat de recherche

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

Arnold Munnich, Jean-Michel Rozet

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The ABCA4 gene in autosomal recessive cone-rod dystrophies.

Jean-Michel Rozet, Arnold Munnich

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Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with cerebellar hypoplasia and disrupt Purkinje cell differentiation.

Marion Coolen, Nami Altin, Karthyayani Rajamani , Giulia Barcia, Aurore POULIET, Patrick Nitschké, Nathalie Boddaert, Antonio Rausell, Lydie Burglen, Vincent Cantagrel

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Genome editing approaches to β-hemoglobinopathies.

Mégane Brusson, Annarita Miccio

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