학술논문
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위반 시 제재
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'학술논문'
에서 검색결과 18건 | 목록
1~20
Academic Journal
Vera-Maria Herrmann; Maria Arelin; Caroline G. Bergner; Julia Herrmann; Paula Janz; Henriette Kiep; Annika Mueller; Steffen Syrbe; Robert Wagner; Bardo Wannenmacher; Nadine Wolf; Michael Weidenbach; Vincent Strehlow
Orphanet Journal of Rare Diseases, Vol 20, Iss 1, Pp 1-7 (2025)
Academic Journal
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Clinics and Practice, Vol 15, Iss 1, p 22 (2025)
Academic Journal
Charlotte Gehin; Museer A. Lone; Winston Lee; Laura Capolupo; Sylvia Ho; Adekemi M. Adeyemi; Erica H. Gerkes; Alexander P.A. Stegmann; Estrella López-Martín; Eva Bermejo-Sánchez; Beatriz Martínez-Delgado; Christiane Zweier; Cornelia Kraus; Bernt Popp; Vincent Strehlow; Daniel Gräfe; Ina Knerr; Eppie R. Jones; Stefano Zamuner; Luciano A. Abriata; Vidya Kunnathully; Brandon E. Moeller; Anthony Vocat; Samuel Rommelaere; Jean-Philippe Bocquete; Evelyne Ruchti; Greta Limoni; Marine Van Campenhoudt; Samuel Bourgeat; Petra Henklein; Christian Gilissen; Bregje W. van Bon; Rolph Pfundt; Marjolein H. Willemsen; Jolanda H. Schieving; Emanuela Leonardi; Fiorenza Soli; Alessandra Murgia; Hui Guo; Qiumeng Zhang; Kun Xia; Christina R. Fagerberg; Christoph P. Beier; Martin J. Larsen; Irene Valenzuela; Paula Fernández-Álvarez; Shiyi Xiong; Robert Śmigiel; Vanesa López-González; Lluís Armengol; Manuela Morleo; Angelo Selicorni; Annalaura Torella; Moira Blyth; Nicola S. Cooper; Valerie Wilson; Renske Oegema; Yvan Herenger; Aurore Garde; Ange-Line Bruel; Frederic Tran Mau-Them; Alexis B.R. Maddocks; Jennifer M. Bain; Musadiq A. Bhat; Gregory Costain; Peter Kannu; Ashish Marwaha; Neena L. Champaigne; Michael J. Friez; Ellen B. Richardson; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Yask Gupta; Tze Y. Lim; Simone Sanna-Cherchi; Bruno Lemaitre; Toshiyuki Yamaji; Kentaro Hanada; John E. Burke; Ana Marjia Jakšić; Brian D. McCabe; Paolo De Los Rios; Thorsten Hornemann; Giovanni D’Angelo; Vincenzo A. Gennarino
The Journal of Clinical Investigation, Vol 133, Iss 10 (2023)
Academic Journal
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Nat Genet
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
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Academic Journal
Monica H. Wojcik; Gabrielle Lemire; Eva Berger; Maha S. Zaki; Mariel Wissmann; Wathone Win; Susan M. White; Ben Weisburd; Dagmar Wieczorek; Leigh B. Waddell; Jeffrey M. Verboon; Grace E. VanNoy; Ana Töpf; Tiong Yang Tan; Steffen Syrbe; Vincent Strehlow; Volker Straub; Sarah L. Stenton; Hana Snow; Moriel Singer-Berk; Josh Silver; Shirlee Shril; Eleanor G. Seaby; Ronen Schneider; Vijay G. Sankaran; Alba Sanchis-Juan; Kathryn A. Russell; Karit Reinson; Gianina Ravenscroft; Maximilian Radtke; Denny Popp; Tilman Polster; Konrad Platzer; Eric A. Pierce; Emily M. Place; Sander Pajusalu; Lynn Pais; Katrin Õunap; Ikeoluwa Osei-Owusu; Henry Opperman; Volkan Okur; Kaisa Teele Oja; Melanie O’Leary; Emily O’Heir; Chantal F. Morel; Andreas Merkenschlager; Rhett G. Marchant; Brian E. Mangilog; Jill A. Madden; Daniel MacArthur; Alysia Lovgren; Jordan P. Lerner-Ellis; Jasmine Lin; Nigel Laing; Friedhelm Hildebrandt; Julia Hentschel; Emily Groopman; Julia Goodrich; Joseph G. Gleeson; Roula Ghaoui; Casie A. Genetti; Janina Gburek-Augustat; Hanna T. Gazda; Vijay S. Ganesh; Mythily Ganapathi; Lyndon Gallacher; Jack M. Fu; Emily Evangelista; Eleina England; Sandra Donkervoort; Stephanie DiTroia; Sandra T. Cooper; Wendy K. Chung; John Christodoulou; Katherine R. Chao; Liam D. Cato; Kinga M. Bujakowska; Samantha J. Bryen; Harrison Brand; Carsten G. Bönnemann; Alan H. Beggs; Samantha M. Baxter; Tobias Bartolomaeus; Pankaj B. Agrawal; Michael Talkowski; Christina Austin-Tse; Rami Abou Jamra; Heidi L. Rehm; Anne O’Donnell-Luria
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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 Bhasin; 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
Nat Genet
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The constitutional gain‐of‐function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
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Bernt Popp; Melanie Brugger; Sibylle Poschmann; Tobias Bartolomaeus; Maximilian Radtke; Julia Hentschel; Nataliya Di Donato; Andreas Rump; Janina Gburek‐Augustat; Elisabeth Graf; Matias Wagner; Ina Sorge; Johannes R Lemke; Thomas Meitinger; Rami Abou Jamra; Vincent Strehlow; Theresa Brunet
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Academic Journal
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Academic Journal
Thomas A. Ravenscroft; Jennifer B. Phillips; Elizabeth Fieg; Sameer S. Bajikar; Judy Peirce; Jeremy Wegner; Alia A. Luna; Eric J. Fox; Yi-Lin Yan; Jill A. Rosenfeld; Jonathan Zirin; Oguz Kanca; Maria T. Acosta; Margaret Adam; David R. Adams; Pankaj B. Agrawal; Mercedes E. Alejandro; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Eva Baker; Ashok Balasubramanya; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Carsten Bonnenmann; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell’Angelica; Shweta U. Dhar; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; David D. Draper; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Carlos Ferreira; Elizabeth L. Fieg; Laurie C. Findley; Paul G. Fisher; Brent L. Fogel; Irman Forghani; Laure Fresard; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Alica M. Goldman; Madison P. Goldrich; David B. Goldstein; Alana Grajewski; Catherine A. 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Samson; Mario Saporta; C. Ron Scott; Judy Schaechter; Timothy Schedl; Kelly Schoch; Daryl A. Scott; Vandana Shashi; Jimann Shin; Rebecca Signer; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica-Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.-G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Audrey Thurm; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Stephanie Wallace; Nicole M. Walley; Chris A. Walsh; Melissa Walker; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Jeremy D. Woods; Shinya Yamamoto; John Yang; Muhammad Yousef; Diane B. Zastrow; Wadih Zein; Chunli Zhao; Stephan Zuchner; Paul J. Benke; Eric S. Cameron; Vincent Strehlow; Konrad Platzer; Rami Abou Jamra; Chiara Klöckner; Matthew Osmond; Thomas Licata; Samantha Rojas; David Dyment; Josephine S.C. Chong; Sharyn Lincoln; John H. Postlethwait; Joel Krier; Hugo J. Bellen
Genet Med
Genetics in Medicine, vol 23, iss 10
Genetics in Medicine, vol 23, iss 10
Academic Journal
Hellen Lesmann; Alexander Hustinx; Shahida Moosa; Hannah Klinkhammer; Elaine Marchi; Pilar Caro; Ibrahim M. Abdelrazek; Jean Tori Pantel; Merle ten Hagen; Meow-Keong Thong; Rifhan Azwani Binti Mazlan; Sok Kun Tae; Tom Kamphans; Wolfgang Meiswinkel; Jing-Mei Li; Behnam Javanmardi; Alexej Knaus; Annette Uwineza; Cordula Knopp; Tinatin Tkemaladze; Miriam Elbracht; Larissa Mattern; Rami Abou Jamra; Clara Velmans; Vincent Strehlow; Maureen Jacob; Angela Peron; Cristina Dias; Beatriz Carvalho Nunes; Thainá Vilella; Isabel Furquim Pinheiro; Chong Ae Kim; Maria Isabel Melaragno; Hannah Weiland; Sophia Kaptain; Karolina Chwiałkowska; Miroslaw Kwasniewski; Ramy Saad; Sarah Wiethoff; Himanshu Goel; Clara Tang; Anna Hau; Tahsin Stefan Barakat; Przemysław Panek; Amira Nabil; Julia Suh; Frederik Braun; Israel Gomy; Luisa Averdunk; Ekanem Ekure; Gaber Bergant; Borut Peterlin; Claudio Graziano; Nagwa Gaboon; Moisés Fiesco-Roa; Alessandro Mauro Spinelli; Nina-Maria Wilpert; Prasit Phowthongkum; Nergis Güzel; Tobias B. Haack; Rana Bitar; Andreas Tzschach; Agusti Rodriguez-Palmero; Theresa Brunet; Sabine Rudnik-Schöneborn; Silvina Noemi Contreras-Capetillo; Ava Oberlack; Carole Samango-Sprouse; Teresa Sadeghin; Margaret Olaya; Konrad Platzer; Artem Borovikov; Franziska Schnabel; Lara Heuft; Vera Herrmann; Renske Oegema; Nour Elkhateeb; Sheetal Kumar; Katalin Komlosi; Khoushoua Mohamed; Silvia Kalantari; Fabio Sirchia; Antonio F. Martinez-Monseny; Matthias Höller; Louiza Toutouna; Amal Mohamed; Amaia Lasa-Aranzasti; John A. Sayer; Nadja Ehmke; Magdalena Danyel; Henrike Sczakiel; Sarina Schwartzmann; Felix Boschann; Max Zhao; Ronja Adam; Lara Einicke; Denise Horn; Kee Seang Chew; KAM Choy Chen; Miray Karakoyun; Ben Pode-Shakked; Aviva Eliyahu; Rachel Rock; Teresa Carrion; Odelia Chorin; Yuri A. Zarate; Marcelo Martinez Conti; Mert Karakaya; Moon Ley Tung; Bharatendu Chandra; Arjan Bouman; Aime Lumaka; Naveed Wasif; Marwan Shinawi; Patrick R. Blackburn; Tianyun Wang; Tim Niehues; Axel Schmidt; Regina Rita Roth; Dagmar Wieczorek; Ping Hu; Rebekah L. Waikel; Suzanna E. Ledgister Hanchard; Gehad Elmakkawy; Sylvia Safwat; Frédéric Ebstein; Elke Krüger; Sébastien Küry; Stéphane Bézieau; Annabelle Arlt; Eric Olinger; Felix Marbach; Dong Li; Lucie Dupuis; Roberto Mendoza-Londono; Sofia Douzgou Houge; Denisa Weis; Brian Hon-Yin Chung; Christopher C.Y. Mak; Hülya Kayserili; Nursel Elcioglu; Ayca Aykut; Peli Özlem Şimşek-Kiper; Nina Bögershausen; Bernd Wollnik; Heidi Beate Bentzen; Ingo Kurth; Christian Netzer; Aleksandra Jezela-Stanek; Koen Devriendt; Karen W. Gripp; Martin Mücke; Alain Verloes; Christian P. Schaaf; Christoffer Nellåker; Benjamin D. Solomon; Markus M. Nöthen; Ebtesam Abdalla; Gholson J. Lyon; Peter M. Krawitz; Tzung-Chien Hsieh
medRxiv
Res Sq
40 Seiten (2024). doi:10.21203/rs.3.rs-4438861/v1
Res Sq
40 Seiten (2024). doi:10.21203/rs.3.rs-4438861/v1
Academic Journal
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 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; Tim Bender; Martin Mücke; Lorenz Grigull; Thomas Klockgether; Spier Isabel; Heimbach André; Bender Tim; 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; 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; Vill Katharina; 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; 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
Academic Journal
Vincent Strehlow; Henrike O Heyne; Danique R M Vlaskamp; Katie F M Marwick; Gabrielle Rudolf; Julitta de Bellescize; Saskia Biskup; Eva H Brilstra; Oebele F Brouwer; Petra M C Callenbach; Julia Hentschel; Edouard Hirsch; Peter C Kind; Cyril Mignot; Konrad Platzer; Patrick Rump; Paul A Skehel; David J A Wyllie; Giles E Hardingham; Conny M A van Ravenswaaij-Arts; Gaetan Lesca; Johannes R Lemke; Alexis Arzimanoglou; Paul B Augustijn; Patrick Van Bogaert; Helene Bourry; Peter Burfeind; Yoyo Chu; Brian Chung; Diane Doummar; Patrick Edery; Aviva Fattal-Valevski; Mélanie Fradin; Marion Gerard; Christa de Geus; Boudewijn Gunning; Danielle Hasaerts; Ingo Helbig; Katherine L Helbig; Rami Jamra; Mélanie Jennesson Lyver; Jolien S Klein Wassink-Ruiter; David A Koolen; Damien Lederer; Roelineke J Lunsing; Mikaël Mathot; Hélène Maurey; Shay Menascu; Anne Michel; Ghayda Mirzaa; Diana Mitter; Hiltrud Muhle; Rikke S Møller; Caroline Nava; Margaret O’Brien; Evelyn van Pinxteren-Nagler; Anne van Riesen; Christelle Rougeot; Damien Sanlaville; Jolanda H Schieving; Steffen Syrbe; Hermine E Veenstra-Knol; Nienke Verbeek; Dorothée Ville; Yvonne J Vos; Pascal Vrielynck; Sabrina Wagner; Sarah Weckhuysen; Marjolein H Willemsen
Brain
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Brain, 142, 1, pp. 80-92
Brain : a journal of neurology, Vol. 142, no. 1, p. 80-92 (2019)
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A, Lesca, G, Lemke, J R, GRIN2A study group & Møller, R S 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80-92 . https://doi.org/10.1093/brain/awy304
Strehlow, V, Heyne, H O, Vlaskamp, D R M, Marwick, K F M, Rudolf, G, de Bellescize, J, Biskup, S, Brilstra, E H, Brouwer, O F, Callenbach, P M C, Hentschel, J, Hirsch, E, Kind, P C, Mignot, C, Platzer, K, Rump, P, Skehel, P A, Wyllie, D J A, Hardingham, G E, van Ravenswaaij-Arts, C M A & Lesca, G & Lemke, J R 2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ', Brain, vol. 142, no. 1, pp. 80–92 . https://doi.org/10.1093/brain/awy304
2019, ' GRIN2A-related disorders : genotype and functional consequence predict phenotype ' vol. 142, no. 1 . DOI: 10.1093/brain/awy304
Academic Journal
Vincent Strehlow; Claudine Rieubland; Sabina Gallati; Sukhan Kim; Scott J. Myers; Vincent Peterson; Amy J. Ramsey; Daniel D. Teuscher; Stephen F. Traynelis; Johannes R. Lemke
Strehlow, Vincent; Rieubland, Claudine; Gallati, Sabrina; Kim, Sukhan; Myers, Scott J; Peterson, Vincent; Ramsey, Amy J; Teuscher, Daniel D; Traynelis, Stephen F; Lemke, Johannes R (2022). Compound-heterozygous GRIN2A null variants associated with severe developmental and epileptic encephalopathy. Epilepsia, 63(10), e132-e137. Wiley-Blackwell 10.1111/epi.17394
Academic Journal
Paul C. Marcogliese; Samantha L. Deal; Jonathan Andrews; J. Michael Harnish; V. Hemanjani Bhavana; Hillary K. Graves; Sharayu Jangam; Xi Luo; Ning Liu; Danqing Bei; Yu-Hsin Chao; Brooke Hull; Pei-Tseng Lee; Hongling Pan; Pradnya Bhadane; Mei-Chu Huang; Colleen M. Longley; Hsiao-Tuan Chao; Hyung-lok Chung; Nele A. Haelterman; Oguz Kanca; Sathiya N. Manivannan; Linda Z. Rossetti; Ryan J. German; Amanda Gerard; Eva Maria Christina Schwaibold; Sarah Fehr; Renzo Guerrini; Annalisa Vetro; Eleina England; Chaya N. Murali; Tahsin Stefan Barakat; Marieke F. van Dooren; Martina Wilke; Marjon van Slegtenhorst; Gaetan Lesca; Isabelle Sabatier; Nicolas Chatron; Catherine A. Brownstein; Jill A. Madden; Pankaj B. Agrawal; Boris Keren; Thomas Courtin; Laurence Perrin; Melanie Brugger; Timo Roser; Steffen Leiz; Frederic Tran Mau-Them; Julian Delanne; Elena Sukarova-Angelovska; Slavica Trajkova; Erik Rosenhahn; Vincent Strehlow; Konrad Platzer; Roberto Keller; Lisa Pavinato; Alfredo Brusco; Jill A. Rosenfeld; Ronit Marom; Michael F. Wangler; Shinya Yamamoto
Cell Rep
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