Publications and ressources

Glibenclamide oral suspension: Suitable and effective in patients with neonatal diabetes.

Michel Polak, Jacques Beltrand

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Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

Sophie Saunier, Valérie Cormier-Daire, Cécile Jeanpierre, Meriem Garfa-Traoré , Patrick Nitschké

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Loss-of-function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish.

Alexandre Benmerah

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Risk of Tuberculosis Infection among Healthcare Workers in a Tertiary Care Hospital in Bengaluru City.

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Risk of Tuberculosis Infection among Healthcare Workers in a Tertiary Care Hospital in Bengaluru City.

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Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism.

Jean-Laurent CASANOVA

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PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations.

Laurent Abel

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Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Vincent Cantagrel

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The Autoimmune Lymphoproliferative Syndrome with Defective FAS or FAS-Ligand Functions.

Bénédicte Neven

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A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Deficiency.

Jacinta Bustamante

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Autosomal Dominant IFN-γR1 Deficiency Presenting with both Atypical Mycobacteriosis and Tuberculosis in a BCG-Vaccinated South African Patient.

Jean-Laurent CASANOVA

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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa.

Alain Hovnanian

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Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis.

Laurent Abel , Jean-Laurent CASANOVA , Emmanuelle Jouanguy

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Scratching Beneath the Surface: Linking Skin Pathology with Food Allergy.

Nadine CERF-BENSUSSAN

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Cerebral blood flow changes after radiation therapy identifies pseudoprogression in diffuse intrinsic pontine gliomas.

Nathalie Boddaert, Ana Saitovitch, Monica Zilbovicius

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