Résultat de recherche

Cell-type-informed genotyping of mosaic focal epilepsies reveals cell-autonomous and non-cell-autonomous disease-associated transcriptional programs

Sara Bizzotto, PhD

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Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.

Audrey Desgrange, Emeline Perthame, Laurent GUILLEMOT, Marie-Amandine CHABRY, Olivier Raisky, Ségolène Bernheim , Lucile Houyel

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A human YEATS4 variant confers resistance to TST and IGRA conversion despite Mycobacterium tuberculosis exposure.

Jeremy Manry, Yoann Seeleuthner, Gaspard Kerner, Stéphanie Boisson-Dupuis, Jean-Laurent CASANOVA , Laurent Abel , Aurélie Cobat

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MosCoverY: A method to estimate mosaic loss of Y chromosome from sequencing coverage data.

Laurent Abel , Aurélie Cobat

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Response to Karp-Tatham et al.

Astrid Marchal, Laurent Abel , Jean-Laurent CASANOVA , Aurélie Cobat

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Autoantibodies neutralizing type I IFNs underlie severe tick-borne encephalitis in ∼10% of patients.

Astrid Marchal, Tom Le Voyer, Laurent Abel , Anne Puel, Paul Bastard, Aurélie Cobat, Shen-Ying Zhang, Jean-Laurent CASANOVA

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