Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.
Research Interests

Papers共 568 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
时间
引用量
主题
期刊级别
合作者
合作机构
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)
Cited0Views0WOSBibtex
0
0
Bi-allelic MED16 Variants Cause a MEDopathy with Intellectual Disability, Motor Delay, and Craniofacial, Cardiac, and Limb Malformations
Charlotte Guillouet, Valeria Agostini,Geneviève Baujat, Dario Cocciadiferro,Tommaso Pippucci,Marion Lesieur-Sebellin, Mathieu Georget,Ulrich Schatz,Christine Fauth,Raymond J Louie, Curtis Rogers, Jessica M Davis,Vassiliki Konstantopoulou,Johannes A Mayr,Arjan Bouman,Martina Wilke,Grace E VanNoy,Eleina M England, Kristen L Park, Kathleen Brown,Margarita Saenz,Antonio Novelli,Maria Cristina Digilio, Gioia Mastromoro, Mauro Ciro Antonio Rongioletti,Gerardo Piacentini,Rauan Kaiyrzhanov, Sughra Guliyeva, Lala Hasanova,Deborah Shears, Ishita Bhatnagar,Karen Stals, Oliver Klaas,Judit Horvath, University of Washington Center for Mendelian Genomics, Patrice Bouvagnet,P Dane Witmer, Gretchen MacCarrick, Katarina Cisarova,Jean-Marc Good, Svetlana Gorokhova,Odile Boute, Thomas Smol,Ange-Line Bruel,Olivier Patat, Julia R Broadbent, Tiong Y Tan, Natalie B Tan,Stanislas Lyonnet, Tiffany Busa, Claudio Graziano,Jeanne Amiel,Christopher T Gordon
American journal of human geneticsno. 4 (2025): 829-845
Cited0Views0WOSBibtex
0
0
Load More
Author Statistics

#Papers: 570

#Citation: 17555

H-Index: 68

G-Index: 112

Sociability: 8

Diversity: 3

Activity: 50

  • 合作者
  • 学生
  • 导师
No result temporarily, you can search similar Scholar with the same research interest
Data Disclaimer
The page data are from open Internet sources, cooperative publishers and automatic analysis results through AI technology. We do not make any commitments and guarantees for the validity, accuracy, correctness, reliability, completeness and timeliness of the page data. If you have any questions, please contact us by email: report@aminer.cn