Resources

Genetics of human susceptibility to active and latent tuberculosis: present knowledge and future perspectives.

Laurent Abel

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

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Impairment of chondrogenesis and microfibrillar network in Adamtsl2 deficiency.

Valérie Cormier-Daire

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Cell type-specific regulation of ciliary transition zone assembly in vertebrates.

Sophie Saunier

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High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Vincent Cantagrel, Nathalie Lefort

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Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Jean-Laurent CASANOVA

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Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.

Géraldine Mollet, Corinne Antignac, Christelle Arrondel, Frances Tilley

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Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

Luís Seabra, Yanick Crow , Marie-Louise Frémond, Alice Lepelley, Isabelle Melki

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Functional characterization of tektin-1 in motile cilia and evidence for TEKT1 as a new candidate gene for motile ciliopathies.

Sophie Saunier

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Hematopoietic Stem Cell Transplant for the Treatment of X-MAID.

Chantal LAGRESLE-PEYROU, Bénédicte Neven

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Description of Two Siblings with Apparently Severe CEP290 Mutations and Unusually Mild Retinal Disease Unrelated to Basal Exon Skipping or Nonsense-Associated Altered Splicing.

Isabelle PERRAULT, Marlène Rio, Jean-Michel Rozet

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Recent advances in the understanding and therapeutic management of mastocytosis.

Laura Polivka, Leila Maouche-Chrétien, Laurent Frenzel, Olivier Hermine

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Genetic Deciphering of Early-Onset and Severe Retinal Dystrophy Associated with Sensorineural Hearing Loss.

Sandrine Marlin, Jean-Michel Rozet, Isabelle PERRAULT

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Lessons to Learn From Low-Dose Cyclosporin-A: A New Approach for Unexpected Clinical Applications.

Olivier Hermine

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Diacerein orphan drug development for epidermolysis bullosa simplex: A phase 2/3 randomized, placebo-controlled, double-blind clinical trial.

Alain Hovnanian

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