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Papers共 298 篇Author StatisticsCo-AuthorSimilar Experts

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Mapping Variants in Thyroid Hormone Transporter MCT8 to Disease Severity by Genomic, Phenotypic, Functional, Structural and Deep Learning Integration
Stefan Groeneweg, Ferdy S van Geest, Mariano Martín,Mafalda Dias,Jonathan Frazer,Carolina Medina-Gomez, Rosalie B T M Sterenborg,Hao Wang, Anna Dolcetta-Capuzzo, Linda J de Rooij,Alexander Teumer,Ayhan Abaci,Erica L T van den Akker, Gautam P Ambegaonkar,Christine M Armour, Iiuliu Bacos,Priyanka Bakhtiani,Diana Barca,Andrew J Bauer, A, Amanda van den Berge,Enrico Bertini,Ingrid M van Beynum,Nicola Brunetti-Pierri, Doris Brunner,Marco Cappa,Gerarda Cappuccio,Barbara Castellotti,Claudia Castiglioni,Krishna Chatterjee, Alexander Chesover,Peter Christian, Jet Coenen-van der Spek, Irenaeus F M de Coo,Regis Coutant,Dana Craiu,Patricia Crock, Christian DeGoede,Korcan Demir, Cheyenne Dewey,Alice Dica, Paul Dimitri,Marjolein H G Dremmen,Rachana Dubey,Anina Enderli, Jan Fairchild,Jonathan Gallichan,Luigi Garibaldi,Belinda George, Evelien F Gevers, Erin Greenup,Annette Hackenberg,Zita Halász,Bianka Heinrich, Anna C Hurst,Tony Huynh, Amber R Isaza,Anna Klosowska, Marieke M van der Knoop,Daniel Konrad,David A Koolen,Heiko Krude,Abhishek Kulkarni, Alexander Laemmle, Stephen H LaFranchi,Amy Lawson-Yuen,Jan Lebl, Selmar Leeuwenburgh, Michaela Linder-Lucht, Anna López Martí, Cláudia F Lorea, Charles M Lourenço,Roelineke J Lunsing,Greta Lyons, Jana Krenek Malikova,Edna E Mancilla,Kenneth L McCormick,Anne McGowan,Veronica Mericq,Felipe Monti Lora,Carla Moran, Katalin E Muller, Lindsey E Nicol, Isabelle Oliver-Petit,Laura Paone,Praveen G Paul,Michel Polak,Francesco Porta, Fabiano O Poswar,Christina Reinauer,Klara Rozenkova,Rowen Seckold,Tuba Seven Menevse,Peter Simm,Anna Simon, Yogen Singh,Marco Spada, Milou A M Stals, Merel T Stegenga,Athanasia Stoupa, Gopinath M Subramanian,Lilla Szeifert,Davide Tonduti,Serap Turan, Joel Vanderniet,Adri van der Walt, Jean-Louis Wémeau, Anne-Marie van Wermeskerken,Jolanta Wierzba,Marie-Claire Y de Wit,Nicole I Wolf, Michael Wurm,Federica Zibordi,Amnon Zung,Nitash Zwaveling-Soonawala,Fernando Rivadeneira,Marcel E Meima,Debora S Marks, Juan P Nicola,Chi-Hua Chen,Marco Medici,W Edward Visser
Nature communicationsno. 1 (2025): 2479-2479
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MCT8 Deficiency in Females
Stefan Groeneweg, Ferdy S van Geest, Floor van der Most, Lucia Abela, Paolo Alfieri,Andrew J Bauer, Enrico Bertini,Marco Cappa, Nurullah Çelik, Irenaeus F M de Coo, Anna Dolcetta-Capuzzo, Ilja Dubinski, Jorge L Granadillo,Lies H Hoefsloot, Vera M Kalscheuer, Marieke M van der Knoop,Heiko Krude, Kyle P McNerney,Laura Paone,Robin P Peeters, Catherine Peters, Markus Schuelke,Ulrich Schweizer,Jennifer E Sprague,A S Paul van Trotsenburg, Nina-Maria Wilpert,Ginevra Zanni,Laura J C M van Zutven,W Edward Visser
The Journal of clinical endocrinology and metabolism (2025)
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Next-generation Phenotyping Integrated in a National Framework for Patients with Ultrarare Disorders Improves Genetic Diagnostics and Yields New Molecular Findings
Axel Schmidt,Magdalena Danyel,Kathrin Grundmann,Theresa Brunet,Hannah Klinkhammer,Tzung-Chien Hsieh,Hartmut Engels,Sophia Peters,Alexej Knaus,Shahida Moosa,Luisa Averdunk,Felix Boschann,Henrike Lisa Sczakiel,Sarina Schwartzmann,Martin Atta Mensah,Jean Tori Pantel,Manuel Holtgrewe, Annemarie Bösch,Claudia Weiß,Natalie Weinhold, Aude-Annick Suter,Corinna Stoltenburg,Julia Neugebauer, Tillmann Kallinich,Angela M Kaindl,Susanne Holzhauer,Christoph Bührer,Philip Bufler,Uwe Kornak,Claus-Eric Ott,Markus Schülke,Hoa Huu Phuc Nguyen,Sabine Hoffjan,Corinna Grasemann,Tobias Rothoeft,Folke Brinkmann,Nora Matar,Sugirthan Sivalingam,Claudia Perne,Elisabeth Mangold,Martina Kreiss,Kirsten Cremer,Regina C Betz,Martin Mücke,Lorenz Grigull,Thomas Klockgether,Isabel Spier,André Heimbach,Tim Bender,Fabian Brand,Christiane Stieber, Alexandra Marzena Morawiec,Pantelis Karakostas,Valentin S Schäfer,Sarah Bernsen,Patrick Weydt,Sergio Castro-Gomez,Ahmad Aziz,Marcus Grobe-Einsler,Okka Kimmich,Xenia Kobeleva,Demet Önder,Hellen Lesmann,Sheetal Kumar,Pawel Tacik, Meghna Ahuja Basin,Pietro Incardona,Min Ae Lee-Kirsch,Reinhard Berner,Catharina Schuetz,Julia Körholz,Tanita Kretschmer,Nataliya Di Donato,Evelin Schröck,André Heinen,Ulrike Reuner, Amalia-Mihaela Hanßke,Frank J Kaiser,Eva Manka,Martin Munteanu,Alma Kuechler,Kiewert Cordula,Raphael Hirtz,Elena Schlapakow,Christian Schlein,Jasmin Lisfeld,Christian Kubisch,Theresia Herget,Maja Hempel,Christina Weiler-Normann,Kurt Ullrich,Christoph Schramm,Cornelia Rudolph,Franziska Rillig, Maximilian Groffmann,Ania Muntau, Alexandra Tibelius,Eva M C Schwaibold,Christian P Schaaf,Michal Zawada,Lilian Kaufmann,Katrin Hinderhofer, Pamela M Okun,Urania Kotzaeridou,Georg F Hoffmann,Daniela Choukair,Markus Bettendorf,Malte Spielmann,Annekatrin Ripke,Martje Pauly,Alexander Münchau,Katja Lohmann,Irina Hüning,Britta Hanker,Tobias Bäumer,Rebecca Herzog,Yorck Hellenbroich,Dominik S Westphal,Tim Strom,Reka Kovacs,Korbinian M Riedhammer,Katharina Mayerhanser,Elisabeth Graf,Melanie Brugger,Julia Hoefele,Konrad Oexle,Nazanin Mirza-Schreiber,Riccardo Berutti,Ulrich Schatz,Martin Krenn,Christine Makowski,Heike Weigand,Sebastian Schröder,Meino Rohlfs,Katharina Vill,Fabian Hauck,Ingo Borggraefe,Wolfgang Müller-Felber,Ingo Kurth,Miriam Elbracht,Cordula Knopp,Matthias Begemann,Florian Kraft,Johannes R Lemke,Julia Hentschel,Konrad Platzer,Vincent Strehlow,Rami Abou Jamra,Martin Kehrer,German Demidov,Stefanie Beck-Wödl,Holm Graessner,Marc Sturm,Lena Zeltner, Ludger J Schöls,Janine Magg,Andrea Bevot,Christiane Kehrer,Nadja Kaiser,Ernest Turro,Denise Horn,Annette Grüters-Kieslich,Christoph Klein,Stefan Mundlos,Markus Nöthen,Olaf Riess,Thomas Meitinger,Heiko Krude,Peter M Krawitz,Tobias Haack,Nadja Ehmke,Matias Wagner
Nature Geneticsno. 8 (2024): 1644-1653
Cited1Views0WOSNATUREBibtex
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Author Statistics

#Papers: 298

#Citation: 17320

H-Index: 56

G-Index: 128

Sociability: 8

Diversity: 3

Activity: 19

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