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Papers共 27 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 Geneticsno. 6 (2025): 101375-101375
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Two Sisters with Hermansky Pudlak Syndrome Type 2 Presenting with Pediatric-Onset Interstitial Lung Disease: an Underrecognized Entity
Lisette Leeuwen,Marielle E. van Gijn,Wim Timens, Taco W. Kuijpers, Gerard H. Koppelman, B. W. M. Willemse
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 536-537
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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
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Author Statistics

#Papers: 27

#Citation: 443

H-Index: 10

G-Index: 16

Sociability: 6

Diversity: 3

Activity: 3

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