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Research Interests

Papers共 69 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）
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A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation
Hana Zunova, Miroslav Stolfa, Tereza Kunikova,Drahuse Novotna, Radka Valkovicova,Katalin Sterbova,Marketa Vlckova
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 3 (2023): 870-877
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The Human Phenotype Ontology in 2024: Phenotypes Around the World
Michael A. Gargano,Nicolas Matentzoglu,Ben Coleman, Eunice B. Addo-Lartey,Anna Anagnostopoulos,Joel Anderton,Paul Avillach,Anita M. Bagley,Eduard Bakstein,James P. Balhoff,Gareth Baynam,Susan M. Bello,Michael Berk,Holli Bertram,Somer Bishop,Hannah Blau,David F. Bodenstein,Pablo Botas,Kaan Boztug, Jolana Cady,Tiffany J. Callahan,Rhiannon Cameron,Seth J. Carbon,Francisco Castellanos,J. Harry Caufield,Lauren E. Chan,Christopher G. Chute,Jaime Cruz-Rojo,Noemi Dahan-Oliel,Jon R. Davids, Maud de Dieuleveult,Vinicius de Souza,Bert B. A. de Vries,Esther de Vries,J. Raymond DePaulo,Beata Derfalvi,Ferdinand Dhombres,Claudia Diaz-Byrd,Alexander J. M. Dingemans,Bruno Donadille,Michael Duyzend,Reem Elfeky,Shahim Essaid, Carolina Fabrizzi,Giovanna Fico,Helen Firth,Yun Freudenberg-Hua,Janice M. Fullerton,Davera L. Gabriel,Kimberly Gilmour,Jessica Giordano,Fernando S. Goes, Rachel Gore Moses, Ian Green,Matthias Griese,Tudor Groza,Weihong Gu,Julia Guthrie,Benjamin Gyori,Ada Hamosh,Marc Hanauer,Katerina Hanusova,Yongqun (Oliver) He,Harshad Hegde,Ingo Helbig, Katerina Holasova,Charles Tapley Hoyt,Shangzhi Huang,Eric Hurwitz,Julius O. B. Jacobsen, Xiaofeng Jiang,Lisa Joseph,Kamyar Keramatian, Bryan King,Katrin Knoflach,David A. Koolen, Megan L. Kraus, Carlo Kroll,Maaike Kusters,Markus S. Ladewig,David Lagorce,Meng-Chuan Lai,Pablo Lapunzina,Bryan Laraway,David Lewis-Smith, Xiarong Li,Caterina Lucano,Marzieh Majd,Mary L. Marazita,Victor Martinez-Glez,Toby H. McHenry,Melvin G. McInnis,Julie A. McMurry, Michaela Mihulova,Caitlin E. Millett,Philip B. Mitchell,Veronika Moslerova, Kenji Narutomi,Shahrzad Nematollahi,Julian Nevado,Andrew A. Nierenberg, Nikola Novak Cajbikova,John I. Nurnberger,Soichi Ogishima, Daniel Olson,Abigail Ortiz,Harry Pachajoa,Guiomar Perez de Nanclares,Amy Peters,Tim Putman,Christina K. Rapp,Ana Rath,Justin Reese,Lauren Rekerle,Angharad M. Roberts, Suzy Roy,Stephan J. Sanders,Catharina Schuetz,Eva C. Schulte,Thomas G. Schulze,Martin Schwarz,Katie Scott,Dominik Seelow,Berthold Seitz,Yiping Shen,Morgan N. Similuk,Eric S. Simon, Balwinder Singh,Damian Smedley, Cynthia L. Smith, Jake T. Smolinsky,Sarah Sperry,Elizabeth Stafford,Ray Stefancsik,Robin Steinhaus,Rebecca Strawbridge,Jagadish Chandrabose Sundaramurthi, Polina Talapova,Jair A. Tenorio Castano,Pavel Tesner,Rhys H. Thomas,Audrey Thurm,Marek Turnovec,Marielle E. van Gijn,Nicole A. Vasilevsky,Marketa Vlckova,Anita Walden, Kai Wang,Ron Wapner,James S. Ware, Addo A. Wiafe,Samuel A. Wiafe,Lisa D. Wiggins,Andrew E. Williams, Chen Wu, Margot J. Wyrwoll, Hui Xiong,Nefize Yalin,Yasunori Yamamoto,Lakshmi N. Yatham,Anastasia K. Yocum,Allan H. Young,Zafer Yueksel,Peter P. Zandi,Andreas Zankl,Ignacio Zarante,Miroslav Zvolsky,Sabrina Toro,Leigh C. Carmody,Nomi L. Harris,Monica C. Munoz-Torres,Daniel Danis,Christopher J. Mungall,Sebastian Koehler,Melissa A. Haendel,Peter N. Robinson
NUCLEIC ACIDS RESEARCH (2023)
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Author Statistics

#Papers: 69

#Citation: 878

H-Index: 15

G-Index: 29

Sociability: 7

Diversity: 3

Activity: 17

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