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AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.

Vincent Cantagrel

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Deletion of the LTR enhancer/promoter has no impact on the integration profile of MLV vectors in human hematopoietic progenitors.

Annarita Miccio

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

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OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.

Sophie Thomas, Arnold Munnich, Nathalie Boddaert, Stanislas Lyonnet, Tania Attié-Bitach, Lydie Burglen

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Autoimmune lymphoproliferative syndrome caused by a homozygous null FAS ligand (FASLG) mutation.

Frédéric Rieux-Laucat

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EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.

Jeanne Amiel, Stanislas Lyonnet, Loïc de Pontual, Sandrine Marlin, Chris Gordon

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Nup153 and Nup98 bind the HIV-1 core and contribute to the early steps of HIV-1 replication.

Annarita Miccio

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Resolving cell lineage contributions to the ventricular conduction system with a Cx40-GFP allele: a dual contribution of the first and second heart fields.

Sigolène Meilhac

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Drosophila ATP6AP2/VhaPRR functions both as a novel planar cell polarity core protein and a regulator of endosomal trafficking.

Matias Simons

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Distinct severity of HLH in both human and murine mutants with complete loss of cytotoxic effector PRF1, RAB27A, and STX11.

Geneviève de Saint Basile, Fernando Sepulveda , Gaël Ménasché, Mathieu Kurowska, Alain Fischer

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Human T-lymphoid progenitors generated in a feeder-cell-free Delta-like-4 culture system promote T-cell reconstitution in NOD/SCID/γc(-/-) mice.

Emmanuelle SIX, Chantal LAGRESLE-PEYROU, Corinne de Chappedelaine, Marina Cavazzana, Isabelle André

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ALDH1A3 mutations cause recessive anophthalmia and microphthalmia.

Christine Bole, Patrick Nitschké, Arnold Munnich, Stanislas Lyonnet, Jean-Michel Rozet

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Quantitative analysis of polarity in 3D reveals local cell coordination in the embryonic mouse heart.

Sigolène Meilhac

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Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells.

Nathalie Lefort

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Asymmetric fate of the posterior part of the second heart field results in unexpected left/right contributions to both poles of the heart.

Sigolène Meilhac

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