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Papers共 295 篇Author StatisticsCo-AuthorSimilar Experts

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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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Clinical and Genetic Characterization of Patients with Eye Diseases Included in the Spanish Rare Diseases Patient Registry
Alberto Lopez-de la Rosa,Juan J. Telleria,Manuel Posada de la Paz, Isabel M. Hermosilla-Gimeno, Miren Agurtzane Rivas, Raúl Gilabert,Rosa M. Coco-Martín
ORPHANET JOURNAL OF RARE DISEASESno. 1 (2024)
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Effect of an Early Intervention Program on Children with ASD: the Relevance of Opinions and Satisfaction of Families
Á. Bejarano-Martín, R. Canal-Bedia,M. Magán-Maganto, A. Hernández-Fabián, A. Calvarro-Castañeda, S. Manso de Dios, P. Malmierca-García,E. Díez-Villoria, C. Jenaro-Río,M. Posada de la Paz
Neuroscience Applied (2024): 104705
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Pushing the Boundaries of Rare Disease Diagnostics with the Help of the First Undiagnosed Hackathon
Angelica Maria Delgado-Vega,Helene Cederroth,Fulya Taylan,Katja Ekholm,Marlene Ek,Håkan Thonberg,Anders Jemt,Daniel Nilsson,Jesper Eisfeldt,Kristine Bilgrav Saether,Ida Höijer,Ozlem Akgun-Dogan, Yui Asano,Tahsin Stefan Barakat,Dominyka Batkovskyte,Gareth Baynam,Olaf Bodamer,Wanna Chetruengchai,Pádraic Corcoran,Madeline Couse,Daniel Danis,German Demidov,Eisuke Dohi,Mattias Erhardsson, Luis Fernandez-Luna,Toyofumi Fujiwara, Neha Garg,Roberto Giugliani,Claudia Gonzaga-Jauregui,Giedre Grigelioniene,Tudor Groza,Cecilia Gunnarsson,Anna Hammarsjö, Charles Kumi Hammond,Özden Hatirnaz Ng, Sirisha Hesketh,Dineshani Hettiarachchi,Maria Johansson Soller, Umn Ahmed Kirmani, Martin Kjellberg,Malin Kvarnung,Oleg Kvlividze,Kristina Lagerstedt-Robinson,Paul Lasko,Timo Lassmann, Lynette Y S Lau,Steven Laurie,Weng Khong Lim,Zhandong Liu,Mariya Lysenkova Wiklander,Prince Makay, Alassane Baneye Maiga,Carolina Maya-González,M Stephen Meyn,Ramprasad Neethiraj,Vincenzo Nigro, Felix Nordgren,Jessica Nordlund,Sara Orrsjö,Jesper Ottosson,Ugur Ozbek,Özkan Özdemir,Clyde Partin,David A Pearce, Raquel Peck,Annie Pedersen,Maria Pettersson,Monnat Pongpanich,Manuel Posada de la Paz,Arun Ramani, Juan Andres Romero,Vanessa I Romero,Richard Rosenquist, Aung Min Saw, Matthew Spencer,Eva-Lena Stattin,Chalurmpon Srichomthong,Isabel Tapia-Paez,Domenica Taruscio,Julie P Taylor,Tinatin Tkemaladze,Ian Tully,Zeynep Tümer, Wendy A G van Zelst-Stams,Alain Verloes, Emma Västerviga,Sailan Wang, Rachel Yang,Shinya Yamamoto,Vicente A Yépez, Qing Zhang,Vorasuk Shotelersuk,Samuel Agyei Wiafe,Yasemin Alanay,Lorenzo D Botto,Salman Kirmani,Aimé Lumaka,Elizabeth Emma Palmer,Ratna Dua Puri,Valtteri Wirta,Anna Lindstrand,Orion J Buske, Mikk Cederroth,Ann Nordgren
Nature geneticsno. 11 (2024): 2287-2294
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Author Statistics

#Papers: 295

#Citation: 6492

H-Index: 40

G-Index: 65

Sociability: 7

Diversity: 4

Activity: 25

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