Résultat de recherche

De novo monoallelic Reelin missense variants act in a dominant-negative manner causing neuronal migration disorders.

Martina Riva, Sofia Ferreira, Yoann Saillour, Vera Medvedeva, Frédéric Causeret, Nadia Bahi-Buisson, Alessandra Pierani

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Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Jean-Michel Rozet, Isabelle Perrault

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Four Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.

Isabelle Perrault, Jean-Michel Rozet

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Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells.

Jean-Michel Rozet, Isabelle Perrault

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Whole Locus Sequencing Identifies a Prevalent Founder Deep Intronic RPGRIP1 Pathologic Variant in the French Leber Congenital Amaurosis Cohort.

Isabelle Perrault, Mohammed ZARHRATE, Jean-Michel Rozet

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