Résultat de recherche

Gene therapy rescues cilia defects and restores olfactory function in a mammalian ciliopathy model.

Sophie Thomas, Tania Attié-Bitach

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BBS10 mutations are common in 'Meckel'-type cystic kidneys.

Sophie Thomas, Tania Attié-Bitach

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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

Arnold Munnich, Sophie Saunier, Sophie Thomas, Tania Attié-Bitach

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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.

Sophie Thomas, Jeanne Amiel, Nathalie Boddaert, Arnold Munnich, Sophie Saunier, Tania Attié-Bitach

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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry

Sven KRACKER, Anne DURANDY, Marina Cavazzana

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

Sven KRACKER, Anne DURANDY

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Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.

Jérémie Rosain, Brigitte Bader-Meunier, Olivier Hermine, Felipe Suarez, Isabelle André, Vivien Beziat, Geneviève de Saint Basile, Jean-Pierre De Villartay, Sven KRACKER, Chantal LAGRESLE-PEYROU, Sylvain Latour, Frédéric Rieux-Laucat, Christine Bole, Patrick Nitschké, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Jacinta Bustamante

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Disease Evolution and Response to Rapamycin in Activated Phosphoinositide 3-Kinase δ Syndrome: The European Society for Immunodeficiencies-Activated Phosphoinositide 3-Kinase δ Syndrome Registry.

Marina Cavazzana, Alain Fischer, Despina Moshous, Bénédicte Neven, Felipe Suarez, Sven KRACKER

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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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Topoisomerase 2β mutation impairs early B-cell development.

Olivier Hermine, Alain Fischer, Anne DURANDY, Sven KRACKER

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