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Papers共 643 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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Variable Ophthalmologic Phenotypes Associated with Biallelic Loss-of-Function Variants in POMGNT1
Lucia Ziccardi,Lucilla Barbano, Mattia D'Andrea,Alessandro Bruselles, Carmen Dell'Aquila,Marcello Niceta,Cecilia Mancini, Alessandro Leone, Mattia Carvetta,Maria Albanese,Emilia Stellacci,Marco Tartaglia,Viviana Cordeddu
International journal of molecular sciencesno. 7 (2025)
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Genomic Reanalysis of a Pan-European Rare-Disease Resource Yields New Diagnoses
Steven Laurie,Wouter Steyaert,Elke de Boer,Kiran Polavarapu,Nika Schuermans,Anna K. Sommer,German Demidov,Kornelia Ellwanger,Ida Paramonov,Coline Thomas,Stefan Aretz,Jonathan Baets,Elisa Benetti,Gemma Bullich,Patrick F. Chinnery,Jill Clayton-Smith,Enzo Cohen,Daniel Danis,Jean-Madeleine de Sainte Agathe,Anne-Sophie Denommé-Pichon,Jordi Diaz-Manera,Stephanie Efthymiou,Laurence Faivre,Marcos Fernandez-Callejo, Mallory Freeberg,José Garcia-Pelaez,Lena Guillot-Noel,Tobias B. Haack, Mike Hanna,Holger Hengel,Rita Horvath,Henry Houlden,Adam Jackson,Lennart Johansson,Mridul Johari,Erik-Jan Kamsteeg,Melanie Kellner,Tjitske Kleefstra,Didier Lacombe,Hanns Lochmüller,Estrella López-Martín,Alfons Macaya,Anna Marcé-Grau,Aleš Maver,Heba Morsy,Francesco Muntoni,Francesco Musacchia,Isabelle Nelson,Vincenzo Nigro,Catarina Olimpio,Carla Oliveira,Jaroslava Paulasová Schwabová,Martje G. Pauly,Borut Peterlin,Sophia Peters,Rolph Pfundt,Giulio Piluso,Davide Piscia,Manuel Posada,Selina Reich,Alessandra Renieri,Lukas Ryba,Karolis Šablauskas,Marco Savarese,Ludger Schöls,Leon Schütz,Verena Steinke-Lange,Giovanni Stevanin,Volker Straub,Marc Sturm,Morris A. Swertz,Marco Tartaglia,Iris B. A. W. te Paske,Rachel Thompson,Annalaura Torella,Christina Trainor,Bjarne Udd,Liedewei Van de Vondel,Bart van de Warrenburg,Jeroen van Reeuwijk,Jana Vandrovcova,Antonio Vitobello,Janet Vos,Emílie Vyhnálková,Robin Wijngaard,Carlo Wilke,Doreen William,Jishu Xu,Burcu Yaldiz, Luca Zalatnai,Birte Zurek,Anthony J. Brookes,Teresinha Evangelista,Christian Gilissen,Holm Graessner,Nicoline Hoogerbrugge,Stephan Ossowski,Olaf Riess,Rebecca Schüle,Matthis Synofzik,Alain Verloes,Leslie Matalonga,Han G. Brunner,Katja Lohmann,Richarda M. de Voer,Ana Töpf,Lisenka E.L.M. Vissers,Sergi Beltran,Alexander Hoischen
Nature Medicinepp.1-12, (2025)
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Author Statistics

#Papers: 643

#Citation: 22808

H-Index: 71

G-Index: 135

Sociability: 9

Diversity: 4

Activity: 175

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