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Papers共 11 篇Author StatisticsCo-AuthorSimilar Experts

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Lessons from Two Series by Physicians and Caregivers' Self-Reported Data in DDX3X-related Disorders
Valentin Ruault,Pauline Burger, Johanna Gradels-Hauguel,Nathalie Ruiz,Rami Abou Jamra,Alexandra Afenjar,Yves Alembik,Jean-Luc Alessandri,Stephanie Arpin,Giulia Barcia,Sarka Bendova,Ange-Line Bruel,Perrine Charles,Nicolas Chatron,Maya Chopra,Solene Conrad,Valerie Cormier Daire,Auriane Cospain,Christine Coubes,Juliette Coursimault,Andree Delahaye-Duriez,Martine Doco,William Dufour,Benjamin Durand,Camille Engel,Laurence Faivre, Fanny Ferroul,Melanie Fradin, Helene Frenkiel,Carlo Fusco,Livia Garavelli,Aurore Garde,Benedicte Gerard,David Germanaud,Louise Goujon,Aurelie Gouronc,Emmanuelle Ginglinger,Alice Goldenberg,Miroslava Hancarova,Marketa Havlovicova,Delphine Heron,Bertrand Isidor,Nolwenn Jean Marcais,Boris Keren,Margarete Koch-Hogrebe,Paul Kuentz, Victoria Lamure,Anne-Sophie Lebre,Francois Lecoquierre,Natacha Lehman,Gaetan Lesca,Stanislas Lyonnet, Delphine Martin,Cyril Mignot,Teresa M. Neuhann,Gael Nicolas,Mathilde Nizon,Florence Petit,Christophe Philippe,Amelie Piton,Marzia Pollazzon,Darina Prchalova,Audrey Putoux,Marlene Rio,Sophie Rondeau,Massimiliano Rossi,Quentin Sabbagh,Pascale Saugier-Veber,Ariane Schmetz,Julie Steffann,Christel Thauvin-Robinet,Annick Toutain,Frederic Tran Mau Them,Gabriele Trimarchi,Marie Vincent,Marketa Vlckova,Dagmar Wieczorek,Marjolaine Willems,Kevin Yauy,Michaela Zelinova,Alban Ziegler,Boris Chaumette,Bekim Sadikovic,Jean-Louis Mandel,David Genevieve
Molecular Genetics & Genomic Medicine（2024）
Cited0Views0WOSBibtex
0
0
Genetic Landscape of Pediatric Acute Liver Failure of Indeterminate Origin
Dominic Lenz,Lea D. Schlieben,Masaru Shimura,Alyssa Bianzano,Dmitrii Smirnov,Robert Kopajtich,Riccardo Berutti,Ruediger Adam,Denise Aldrian,Ivo Baric,Ulrich Baumann,Neslihan E. Bozbulut,Melanie Brugger,Theresa Brunet,Philip Bufler,Burnyte Birute,Pier L. Calvo,Ellen Crushell,Buket Dalgic,Anibh M. Das,Antal Dezsofi,Felix Distelmaier,Alexander Fichtner,Peter Freisinger,Sven F. Garbade,Harald Gaspar,Louise Goujon,Nedim Hadzic,Steffen Hartleif,Bianca Hegen,Maja Hempel,Stephan Henning,Andre Hoerning,Roderick Houwen,Joanne Hughes,Raffaele Iorio,Katarzyna Iwanicka-Pronicka,Martin Jankofsky,Norman Junge,Ino Kanavaki,Aydan Kansu,Sonja Kaspar,Simone Kathemann,Deidre Kelly,Ceyda T. Kirsaclioglu,Birgit Knoppke,Martina Kohl,Heike Koelbel,Stefan Koelker,Vassiliki Konstantopoulou,Tatiana Krylova,Zarife Kuloglu,Alice Kuster,Martin W. Laass,Elke Lainka,Eberhard Lurz,Hanna Mandel,Katharina Mayerhanser,Johannes A. Mayr,Patrick McKiernan,Patricia McClean,Valerie McLin,Karine Mention,Hanna Mueller,Laurent Pasquier, Martin Pavlov,Natalia Pechatnikova,Bianca Peters,Danijela Petkovic Ramadza,Dorota Piekutowska-Abramczuk,Denisa Pilic,Sanjay Rajwal,Nathalie Rock,Agnes Roetig,Rene Santer, Wilfried Schenk,Natalia Semenova,Christiane Sokollik,Ekkehard Sturm,Robert W. Taylor,Eva Tschiedel,Vaidotas Urbonas,Roser Urreizti,Jan Vermehren,Jerry Vockley,Georg-Friedrich Vogel,Matias Wagner,Wendy van der Woerd,Saskia B. Wortmann,Ekaterina Zakharova,Georg F. Hoffmann,Thomas Meitinger,Kei Murayama,Christian Staufner,Holger Prokisch
HEPATOLOGY（2024）
Cited7Views0WOSBibtex
7
0
Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly
Artem Kim,Clara Savary,Christele Dubourg,Wilfrid Carre,Charlotte Mouden,Houda Hamdi-Roze,Helene Guyodo,Jerome Le Douce,Laurent Pasquier,Elisabeth Flori,Marie Gonzales,Claire Beneteau,Odile Boute,Tania Attie-Bitach,Joelle Roume,Louise Goujon,Linda Akloul,Sylvie Odent,Erwan Watrin,Valerie Dupe,Marie de Tayrac,Veronique David,Emmanuelle Genin,Dominique Campion, Jean-Franc Comma Ois Dartigues,Jean-Francois Deleuze, Jean-Charles Lambert,Richard Redon, Thomas Ludwig,Benjamin Grenier-Boley, Sebastien Letort,Pierre Lindenbaum,Vincent Meyer,Olivier Quenez,Christian Dina, Celine Bellenguez, Camille Charbonnier-Le Clezio,Joanna Giemza,Stephanie Chatel,Claude Ferec,Herve Le Marec, Luc Letenneur,Gael Nicolas,Karen Rouault,Delphine Bacq,Anne Boland,Doris Lechner,Cisca Wijmenga, Morris A. Swertz,P. Eline Slagboom, Gert-Jan B. van Ommen,Cornelia M. van Duijn,Dorret I. Boomsma,Paul I. W. de Bakker, Jasper A. Bovenberg,Anton J. M. de Craen,Marian Beekman,Albert Hofman,Gonneke Willemsen, Bruce Wolffenbuttel,Mathieu Platteel, Yuanping Du,Ruoyan Chen,Hongzhi Cao, Rui Cao, Yushen Sun, Jeremy Sujie Cao, Freerk van Dijk,Pieter B. T. Neerincx, Patrick Deelen, Martijn Dijkstra, George Byelas,Alexandros Kanterakis, Jan Bot,Kai Ye, Eric-Wubbo Lameijer,Martijn Vermaat,Jeroen F. J. Laros,Johan T. den Dunnen, Peter de Knijff, Lennart C. Karssen, Elisa M. van Leeuwen,Najaf Amin, Vyacheslav Koval,Fernando Rivadeneira, Karol Estrada,Jayne Y. Hehirkwa, Joep de Ligt,Abdel Abdellaoui,Jouke-Jan Hottenga, V. Mathijs Kattenberg,David van Enckevort, Hailiang Mei, Mark Santcroos,Barbera D. C. van Schaik, Robert E. Handsaker,Steven A. McCarroll,Evan E. Eichler, Arthur Ko,Peter Sudmant, Laurent C. Francioli, Wigard P. Kloosterman, Isaac J. Nijman, Victor Guryev
BRAIN（2019）
Cited43Views0WOSBibtex
43
0
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Author Statistics

#Papers: 11

#Citation: 108

H-Index: 4

G-Index: 7

Sociability: 6

Diversity: 2

Activity: 5

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