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Research Interests

Papers共 6 篇Author StatisticsCo-AuthorSimilar Experts

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Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility
Clothilde Esteve,Ludmila Francescatto,Perciliz L. Tan,Aurelie Bourchany,Cecile De Leusse,Evelyne Marinier,Arnaud Blanchard,Patrice Bourgeois,Celine Brochier-Armanet,Ange-Line Bruel,Arnauld Delarue,Yannis Duffourd,Emmanuelle Ecochard-Dugelay,Geraldine Hery,Frederic Huet,Philippe Gauchez,Emmanuel Gonzales, Catherine Guettier-Bouttier,Mina Komuta,Caroline Lacoste, Raphaelle Maudinas, Karin Mazodier, Yves Rimet, Jean-Baptiste Riviere, Bertrand Roquelaure, Sabine Sigaudy, Xavier Stephenne, Christel Thauvin-Robinet, Julien Thevenon, Jacques Sarles, Nicolas Levy, Catherine Badens, Olivier Goulet, Jean-Pierre Hugot, Nicholas Katsanis, Laurence Faivre, Alexandre Fabre
American journal of human genetics（2018）
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Author Statistics

#Papers: 6

#Citation: 7

H-Index: 2

G-Index: 2

Sociability: 4

Diversity: 1

Activity: 0

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