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论文共 49 篇作者统计合作学者相似作者

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AUTS2-related Syndrome: Insights from a Large European Cohort
Lorenzo Loberti,Loredaria Adamo,Enrica Antolini, Giulia Casamassima,Anne Destrèe,Nicola Brunetti-Pierri,David Genevieve, Philippe Christophe,Christine Coubes,Hilde Van Esch,Theresia Herget,Fanny Kortüm,Jasmin Lisfeld, Anna Charlotte Möllring,Martin Zenker,Jonathan Levy,Laurence Perrin,Anne-Claude Tabet,Anna Maruani,Arthur Sorlin,Daniel Stieber, Lucas Herissant, Karin Dahan,Lorenzo Sinibaldi,Rossella Capolino,Maria Lisa Dentici,Bruno Dallapiccola,Antonio Novelli,Livia Garavelli,Stefano Giuseppe Caraffi,Gianluca Piatelli,Irene Valenzuela,Maria Cristina Digilio,Roseline Caumes,Cordula Knopp,Karolina Chwiałkowska,Aleksandra Jezela-Stanek, Miroslaw Kwasniewski, Urszula Korotko, Ewelina Gorzałczyńska,Roberto Canitano,Salvatore Grosso,Elisa Rahikkala, Larissa Mattern,Miriam Elbracht,Orsetta Zuffardi,Valentina Caputo, Benedetta Toschi,Gea Beunders,Lisette Leeuwen,Mariet W Elting,Liselot van der Laan, Marjoleine F Broekema,Alexander J Groffen, Jiddeke M van de Kamp, Mieke M van Haelst,Marielle Alders, Salvatore Pietro Mauro, Francesca De Razza, Dora Varvara, Johanna Kick,Harald Gaspar,Dominique Braun,Eva Lausberg, Andrea Maier,Valentin Ruault,Rita Genesio,Marco Tartaglia,Rossella Tita,Mirella Bruttini,Ilaria Longo,Margherita Baldassarri,Maria Antonietta Mencarelli,Alessandra Renieri,Anna Maria Pinto
Genetics in medicine official journal of the American College of Medical Geneticspp.101375-101375, (2025)
引用0浏览0WOS引用
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The Clinical and Molecular Spectrum of the KDM6B-related Neurodevelopmental Disorder
Dmitrijs Rots,Taryn E. Jakub,Crystal Keung,Vissers E. L. M. Lisenka,Siddharth Banka,Rolph Pfundt,Bert B. A. de Vries,Richard H. van Jaarsveld,Saskia M. J. Hopman,Ellen van Binsbergen,Irene Valenzuela,Maja Hempel,Tatjana Bierhals,Fanny Kortuem,Francois Lecoquierre,Alice Goldenberg,Jens Michael Hertz,Charlotte Brasch Andersen,Maria Kibaek,Eloise J. Prijoles,Roger E. Stevenson,David B. Everman,Wesley G. Patterson,Linyan Meng,Charul Gijavanekar,Karl De Dios,Shenela Lakhani,Tess Levy,Matias Wagner,Dagmar Wieczorek,Paul J. Benke,Maria Soledad Lopez Garcia,Renee Perrier,Sergio B. Sousa,Pedro M. Almeida,Maria Jose Simoes,Bertrand Isidor,Wallid Deb,Andrew A. Schmanski,Omar Abdul-Rahman,Christophe Philippe,Ange-Line Bruel,Laurence Faivre,Antonio Vitobello,Christel Thauvin,Jeroen J. Smits,Livia Garavelli,Stefano G. Caraffi,Francesca Peluso,Laura Davis-Keppen, Dylan Platt,Erin Royer,Lisette Leeuwen,Margje Sinnema,Alexander P. A. Stegmann,Constance T. R. M. Stumpel,George E. Tiller,Danielle G. M. Bosch, Stephanus T. Potgieter,Shelagh Joss,Miranda Splitt,Simon Holden,Matina Prapa,Nicola Foulds,Sofia Douzgou,Kaija Puura,Regina Waltes,Andreas G. Chiocchetti,Christine M. Freitag,F. Kyle Satterstrom,Silvia De Rubeis,Joseph Buxbaum,Bruce D. Gelb,Aleksic Branko,Itaru Kushima,Jennifer Howe,Stephen W. Scherer,Alessia Arado,Chiara Baldo,Olivier Patat,Demeer Benedicte,Diego Lopergolo,Filippo M. Santorelli,Tobias B. Haack,Andreas Dufke,Miriam Bertrand,Ruth J. Falb,Angelika Riess,Peter Krieg,Stephanie Spranger,Maria Francesca Bedeschi,Maria Iascone,Sarah Josephi-Taylor,Tony Roscioli,Michael F. Buckley,Jan Liebelt,Aditi I. Dagli,Emmelien Aten,Anna C. E. Hurst, Alesha Hicks,Mohnish Suri,Ermal Aliu,Sunil Naik,Richard Sidlow,Juliette Coursimault,Gael Nicolas,Hanna Kuepper,Florence Petit, Veyan Ibrahim,Deniz Top,Francesca Di Cara,Raymond J. Louie,Elliot Stolerman,Han G. Brunner,Lisenka E. L. M. Vissers,Jamie M. Kramer,Tjitske Kleefstra
The American Journal of Human Geneticsno. 6 (2023): 963-978
引用2浏览0WOS引用
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Gain-of-function and Loss-of-function Variants in GRIA3 Lead to Distinct Neurodevelopmental Phenotypes
Berardo Rinaldi,Allan Bayat,Linda G. Zachariassen,Jia-Hui Sun,Yu-Han Ge, Dan Zhao, Kristine Bonde,Laura H. Madsen, Ilham Abdimunim Ali Awad, Duygu Bagiran, Amal Sbeih, Syeda Maidah Shah, Shaymaa El-Sayed, Signe M. Lyngby, Miriam G. Pedersen,Charlotte Stenum-Berg, Louise Claudia Walker,Ilona Krey,Andree Delahaye-Duriez,Lisa T. Emrick,Krystal Sully,Chaya N. Murali,Lindsay C. Burrage, Julie Ana Plaud Gonzalez,Mered Parnes,Jennifer Friedman,Bertrand Isidor,Jeremie Lefranc,Sylvia Redon,Delphine Heron,Cyril Mignot,Boris Keren,Melanie Fradin,Christele Dubourg,Sandra Mercier,Thomas Besnard,Benjamin Cogne,Wallid Deb,Clotilde Rivier,Donatella Milani,Maria Francesca Bedeschi, Claudia Di Napoli,Federico Grilli,Paola Marchisio, Suzanna Koudijs, Danielle Veenma,Emanuela Argilli,Sally Ann Lynch,Ping Yee Billie Au, Fernando Eduardo Ayala Valenzuela,Carolyn Brown,Diane Masser-Frye,Marilyn Jones,Leslie Patron Romero, Wenhui Laura Li,Erin Thorpe,Laura Hecher,Jessika Johannsen,Jonas Denecke,Vanda McNiven,Anna Szuto,Emma Wakeling,Vincent Cruz,Valerie Sency,Heng Wang,Juliette Piard,Fanny Kortuem,Theresia Herget,Tatjana Bierhals, Angelo Condell,Bruria Ben-Zeev,Simranpreet Kaur,John Christodoulou,Amelie Piton,Christiane Zweier,Cornelia Kraus,Alessia Micalizzi,Marina Trivisano,Nicola Specchio,Gaetan Lesca,Rikke S. Moller,Zeynep Tumer,Maria Musgaard,Benedicte Gerard,Johannes R. Lemke,Yun Stone Shi,Anders S. Kristensen
Brainno. 5 (2023): 1837-1855
引用1浏览0WOS引用
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作者统计

#Papers: 49

#Citation: 1666

H-Index: 19

G-Index: 37

Sociability: 7

Diversity: 3

Activity: 5

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