Resources

Anatomy and mobility in the adult cadaveric craniocervical junction.

Maxime Taverne, Roman Hossein Khonsari, Thomas Blauwblomme

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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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New diagnostic criteria for metopic ridges and trigonocephaly: a 3D geometric approach.

Maxime Taverne, Roman Hossein Khonsari

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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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Revolutionising healing: Gene Editing's breakthrough against sickle cell disease.

Annarita Miccio

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Inactivation of cytidine triphosphate synthase 1 prevents fatal auto-immunity in mice.

Claire Soudais, Romane Schaus, Norbert Minet, Sara Mouasni, Cécile Garcin, Pierre David, Paul Palmquist-Gomes, Alain Fischer, Emmanuel Martin, Sylvain Latour, Sigolène Meilhac

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Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome.

Quentin Hennocq, Jeanne Amiel, Tania Attié-Bitach, Thomas Bongibault, Valérie Cormier-Daire, Maxime Douillet, Stanislas Lyonnet, Marlène Rio, Nicolas Garcelon

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Identifying interindividual variability of social perception and associated brain anatomical correlations in children with autism spectrum disorder using eye-tracking and diffusion tensor imaging MRI (DTI-MRI).

Alice Vinçon-Leite, Ana Saitovitch, Hervé Lemaître, Elza Rechtman, Jennifer Boisgontier, Ludovic Fillon, Anne Philippe , Marlène Rio, Aurélie Fabre, Khawla Aljabali, Nathalie Boddaert, Monica Zilbovicius

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Progress and harmonization of gene editing to treat human diseases: Proceeding of COST Action CA21113 GenE-HumDi.

Annarita Miccio

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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

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Hemifacial myohyperplasia is due to somatic muscular PIK3CA gain-of-function mutations and responds to pharmacological inhibition.

Charles BAYARD, Maxime Taverne, Quentin Hennocq, Michael Dussiot

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Identification of Greb1l as a genetic determinant of crisscross heart in mice showing torsion of the heart tube by shortage of progenitor cells.

Ségolène Bernheim , Emeline Perthame, Audrey Desgrange, Cindy Michel, Laurent GUILLEMOT, Damien Bonnet, Sigolène Meilhac

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TUBB4B variants specifically impact ciliary function, causing a ciliopathic spectrum

Jeanne Amiel, Jean-Michel Rozet, Jean-Michel Rozet

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medRxiv

Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet

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medRxiv

Jeanne Amiel, Pierre David, Nathalie Boddaert, Jean-Michel Rozet

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