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Research Interests

Papers共 31 篇Author StatisticsCo-AuthorSimilar Experts

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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)
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DDX3X-related Neurodevelopmental Disorder in Males - Presenting a New Cohort of 19 Males and a Literature Review
Milou G P Kennis,Dmitrijs Rots,Arjan Bouman,Charlotte W Ockeloen, Caroline Boelen, Carlo L M Marcelis,Bert B A de Vries,Mariet W Elting,Quinten Waisfisz,Mohnish Suri, Esperanza Font-Montgomery, Dawn S Peck, Deirdre E Donnelly,R Curtis Rogers, Ruth Richardson,Roseline Caumes,Boris Chaumette, Cécile Louveau,Suzanne C E H Sallevelt,Saskia M Maas, Jeroen J Smits, Mieke M van Haelst, Rebecca J Levy,Helen Stewart, Bart L Loeys,Rolph Pfundt,Tjitske Kleefstra, Lot Snijders Blok
European journal of human genetics EJHG（2025）
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Author Statistics

#Papers: 31

#Citation: 536

H-Index: 11

G-Index: 20

Sociability: 7

Diversity: 3

Activity: 21

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