Evaluation of a Custom Design Gene Panel as a Diagnostic Tool for Human Non-Syndromic Infertility by Ozlem Okutman, Julien Tarabeux, Jean Muller, Stéphane Viville

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Case Report: A New Gain-of-Function Mutation of STAT1 Identified in a Patient With Chronic Mucocutaneous Candidiasis and Rosacea-Like Demodicosis: An Emerging Association by Martin Martinot, Anne Sophie Korganow, Mathieu Wald, Julie Second, Elodie Birckel, Antoine Mahé, Laurent Souply, Mahsa Mohseni-Zadeh, Laure Droy, Julien Tarabeux, Satoshi Okada, Mélanie Migaud, Anne Puel, Anne Puel, Anne Puel, Aurelien Guffroy

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WGS Revealed Novel <i>BBS5</i> Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects by Adella Karam, Clarisse Delvallée, Alejandro Estrada-Cuzcano, Véronique Geoffroy, Jean-Baptiste Lamouche, Anne-Sophie Leuvrey, Elsa Nourisson, Julien Tarabeux, Corinne Stoetzel, Sophie Scheidecker, Louise Frances Porter, Emmanuelle Génin, Richard Redon, Florian Sandron, Anne Boland, Jean-François Deleuze, Nicolas Le May, Hélène Dollfus, Jean Muller

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Pros and cons of HaloPlex enrichment in cancer predisposition genetic diagnosis by Agn&#232;s Collet, Julien Tarabeux, Elodie Girard, Catherine Dubois DEnghien, Lisa Golmard, Vivien Deshaies, Alban Lermine, Anthony Laug&#233;, Virginie Moncoutier, C&#233;drick Lefol, Florence Copigny, Catherine Dehainault, Henrique Tenreiro, Christophe Guy, Khadija Abidallah, Catherine Barbaroux, Etienne Rouleau, Nicolas Servant, Antoine De Pauw, Dominique Stoppa-Lyonnet, Claude Houdayer

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