Publications and ressources

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis.

Frédéric Rieux-Laucat

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Pauci- and Multibacillary Leprosy: Two Distinct, Genetically Neglected Diseases.

Alexandre Alcaïs

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Transcriptional, epigenetic and retroviral signatures identify regulatory regions involved in hematopoietic lineage commitment.

Annarita Miccio

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Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.

Cécile Jeanpierre

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Tuning Eye-Gaze Perception by Transitory STS Inhibition.

Monica Zilbovicius , Monica Zilbovicius , Ana Saitovitch, Hervé Lemaître, Elza Rechtman, Nathalie Boddaert

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Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 mutation.

Camille Maillard, Despina Moshous, Marlène Rio, Nathalie Boddaert, Sophie Thomas, Nadia Bahi-Buisson

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Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

Camille Maillard, Sophie Thomas, Nadia Bahi-Buisson

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Amotl1 mediates sequestration of the Hippo effector Yap1 downstream of Fat4 to restrict heart growth.

Laurent GUILLEMOT, Sigolène Meilhac

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Amotl1 mediates sequestration of the Hippo effector Yap1 downstream of Fat4 to restrict heart growth.

Laurent GUILLEMOT

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Clinical spectrum and features of activated phosphoinositide 3-kinase δ syndrome: A large patient cohort study.

Frédéric Rieux-Laucat, Sylvain Latour, Alain Fischer, Jean-Laurent CASANOVA , Anne DURANDY, Despina Moshous, Sven KRACKER

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Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.

Jacinta Bustamante

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Gene Therapy with Hematopoietic Stem Cells: The Diseased Bone Marrow's Point of View.

Marina Cavazzana, Chantal LAGRESLE-PEYROU

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Dynamic Transcriptional and Epigenetic Regulation of Human Epidermal Keratinocyte Differentiation.

Annarita Miccio

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Primary immunodeficiencies suggest redundancy within the human immune system

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[Actin nucleation and HIV transfer from dendritic cells to T lymphocytes].

Mickaël Ménager

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