Résultat de recherche

New Publication

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Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Karine Siquier , Vincent Cantagrel, Jeanne Amiel, Nathalie Boddaert

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Gene signature extraction and cell identity recognition at the single-cell level with Cell-ID.

Emmanuelle SIX, Antonio Rausell

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Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.

Stanislas Lyonnet, Jeanne Amiel, Chris Gordon

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Functional characterization of RELN missense mutations involved in recessive and dominant forms of Neuronal Migration Disorders

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

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