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Papers共 15 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals
Dana E. Layo-Carris,Emily E. Lubin,Annabel K. Sangree,Kelly J. Clark,Emily L. Durham,Elizabeth M. Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss,Roberto Mendoza-Londono,Lucie Dupuis,Nadirah Damseh,Danita Velasco,Irene Valenzuela,Marta Codina-Sola,Catherine Ziats, Jaclyn Have,Katie Clarkson,Dora Steel,Manju Kurian,Katy Barwick, Diana Carrasco,Aditi I. Dagli,M. J. M. Nowaczyk,Miroslava Hancarova,Sarka Bendova,Darina Prchalova,Zdenek Sedlacek, Alica Baxova,Catherine Bearce Nowak,Jessica Douglas,Wendy K. Chung,Nicola Longo,Konrad Platzer,Chiara Kloeckner,Luisa Averdunk,Dagmar Wieczorek,Ilona Krey,Christiane Zweier,Andre Reis,Tugce Balci,Marleen Simon,Hester Y. Kroes,Antje Wiesener,Georgia Vasileiou,Nikolaos M. Marinakis,Danai Veltra,Christalena Sofocleous,Konstantina Kosma,Joanne Traeger Synodinos, Konstantinos A. Voudris,Marie-Laure Vuillaume,Paul Gueguen,Nicolas Derive,Estelle Colin, Clarisse Battault,Billie Au,Martin Delatycki,Mathew Wallis,Lyndon Gallacher,Fatma Majdoub,Noor Smal,Sarah Weckhuysen,An-Sofie Schoonjans,R. Frank Kooy,Marije Meuwissen,Benjamin T. Cocanougher,Kathryn Taylor,Carolyn E. Pizoli,Marie T. McDonald, Philip James,Elizabeth R. Roeder,Rebecca Littlejohn,Nicholas A. Borja,Willa Thorson, Kristine King,Radka Stoeva,Manon Suerink,Esther Nibbeling, Stephanie Baskin, Gwenael L. E. Guyader,Julie Kaplan,Candace Muss,Deanna Alexis Carere,Elizabeth J. K. Bhoj,Laura M. Bryant
EUROPEAN JOURNAL OF HUMAN GENETICS (2024)
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De novo splice pathogenic variant in the ODC1 gene causing Bachmann-Bupp syndrome in a French patient
Yosra Halleb,Marine Tessarech,Alban Ziegler, Vincent Flurin, Dominique Martin Coignard,Dominique Bonneau,Agnes Guichet,Radka Stoeva
EUROPEAN JOURNAL OF HUMAN GENETICS (2023): 232-232
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Phenotypic Spectrum and Genomics of Undiagnosed Arthrogryposis Multiplex Congenita
Annie Laquerriere,Dana Jaber,Emanuela Abiusi,Jerome Maluenda,Dan Mejlachowicz,Alexandre Vivanti,Klaus Dieterich,Radka Stoeva,Loic Quevarec,Flora Nolent,Valerie Biancalana,Philippe Latour,Damien Sternberg,Yline Capri,Alain Verloes,Bettina Bessieres,Laurence Loeuillet,Tania Attie-Bitach,Jelena Martinovic,Sophie Blesson,Florence Petit,Claire Beneteau,Sandra Whalen,Florent Marguet,Jerome Bouligand,Delphine Heron,Geraldine Viot,Jeanne Amiel,Daniel Amram,Celine Bellesme,Martine Bucourt,Laurence Faivre,Pierre-Simon Jouk,Suonavy Khung,Sabine Sigaudy,Anne-Lise Delezoide,Alice Goldenberg,Marie-Line Jacquemont,Laetitia Lambert,Valerie Layet,Stanislas Lyonnet,Arnold Munnich,Lionel Van Maldergem,Juliette Piard,Fabien Guimiot,Pierre Landrieu,Pascaline Letard,Fanny Pelluard,Laurence Perrin,Marie-Helene Saint-Frison,Haluk Topaloglu,Laetitia Trestard,Catherine Vincent-Delorme,Helge Amthor,Christine Barnerias,Alexandra Benachi,Eric Bieth, Elise Boucher,Valerie Cormier-Daire,Andree Delahaye-Duriez,Isabelle Desguerre,Bruno Eymard,Christine Francannet,Sarah Grotto,Didier Lacombe,Fanny Laffargue,Marine Legendre,Dominique Martin-Coignard,Andre Megarbane,Sandra Mercier,Mathilde Nizon,Luc Rigonnot,Fabienne Prieur,Chloe Quelin, Hanitra Ranjatoelina-Randrianaivo,Nicoletta Resta,Annick Toutain,Helene Verhelst,Marie Vincent,Estelle Colin,Catherine Fallet-Bianco,Michele Granier,Romulus Grigorescu,Julien Saada,Marie Gonzales,Anne Guiochon-Mantel,Jean-Louis Bessereau,Marcel Tawk,Ivo Gut,Cyril Gitiaux,Judith Melki
Journal of Medical Genetics（2021）
Cited26Views0WOSBibtex
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Author Statistics

#Papers: 15

#Citation: 232

H-Index: 7

G-Index: 8

Sociability: 6

Diversity: 2

Activity: 7

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