학술논문
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공정이용 지침
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위반 시 제재
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'학술논문'
에서 검색결과 20건 | 목록
1~20
Academic Journal
Mateja Pfeifer; Helga Rehder; Maria Gerykova Bujalkova; Christine Bartsch; Barbara Fritz; Cordula Knopp; Björn Beckers; Frank Dohle; Matthias Meyer-Wittkopf; Roland Axt-Fliedner; Alexander V. Beribisky; Manuel Hofer; Franco Laccone; Katharina Schoner
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)
Academic Journal
Sheng-Jia Lin; Barbara Vona; Tracy Lau; Kevin Huang; Maha S. Zaki; Huda Shujaa Aldeen; Ehsan Ghayoor Karimiani; Clarissa Rocca; Mahmoud M. Noureldeen; Ahmed K. Saad; Cassidy Petree; Tobias Bartolomaeus; Rami Abou Jamra; Giovanni Zifarelli; Aditi Gotkhindikar; Ingrid M. Wentzensen; Mingjuan Liao; Emalyn Elise Cork; Pratishtha Varshney; Narges Hashemi; Mohammad Hasan Mohammadi; Aboulfazl Rad; Juanita Neira; Mehran Beiraghi Toosi; Cordula Knopp; Ingo Kurth; Thomas D. Challman; Rebecca Smith; Asmahan Abdalla; Thomas Haaf; Mohnish Suri; Manali Joshi; Wendy K. Chung; Andres Moreno-De-Luca; Henry Houlden; Reza Maroofian; Gaurav K. Varshney
Genome Medicine, Vol 15, Iss 1, Pp 1-24 (2023)
Academic Journal
Hellen Lesmann; Shahida Moosa; Tori Pantel; Stanislav Rosnev; Alexander Hustinx; Behnam Javanmardi; Alexej Knaus; Tom Kamphans; Wolfgang Meiswinkel; Jing-Mei Li; Merle ten Hagen; Pilar Caro; Clara Velmans; Matthias Höller; Ibrahim Abdelrazek; Gehad Elmakkawy; Khoushoua Alaadin; Kimberly Christine Coetzer; Frédéric Ebstein; Sebastian Küry; Ebtesam Abdalla; Miriam Elbracht; Cordula Knopp; Annabelle Arlt; Claudio Graziano; Borovikov Artem; Annette Uwineza; Felix Marbach; Christian Netzer; Rami Abou Jamra; Markus Nöthen; Gholson Lyon; Peter Krawitz; Tzung-Chien Hsieh
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100225- (2023)
Academic Journal
Luise Kessler; Jeremias Krause; Florian Kraft; Asmaa K. Amin; Gyorgy Fekete; Anna Lengyel; Eva Pinti; Arpad Kovacs; Annette Lischka; Katja Eggermann; Ingo Kurth; Cordula Knopp; Miriam Elbracht; Matthias Begemann; Thomas Eggermann
Clin Genet
Clinical genetics 107(3), 241-370 (2024). doi:10.1111/cge.14649
Clinical genetics 107(3), 241-370 (2024). doi:10.1111/cge.14649
Academic Journal
Florian Kraft; Piere Rodriguez-Aliaga; Weimin Yuan; Lena Franken; Kamil Zajt; Dimah Hasan; Ting-Ting Lee; Elisabetta Flex; Andreas Hentschel; A. Micheil Innes; Bixia Zheng; Dong Sun Julia Suh; Cordula Knopp; Eva Lausberg; Jeremias Krause; Xiaomeng Zhang; Pamela Trapane; Riley Carroll; Martin McClatchey; Andrew E. Fry; Lisa Wang; Sebastian Giesselmann; Hieu Hoang; Dustin Baldridge; Gary A. Silverman; Francesca Clementina Radio; Enrico Bertini; Andrea Ciolfi; Katherine A Blood; Jean-Madeleine de Sainte Agathe; Perrine Charles; Gaber Bergant; Goran Čuturilo; Borut Peterlin; Karin Diderich; Haley Streff; Laurie Robak; Renske Oegema; Ellen van Binsbergen; John Herriges; Carol J. Saunders; Andrea Maier; Stefan Wolking; Yvonne Weber; Hanns Lochmüller; Stefanie Meyer; Alberto Aleman; Kiran Polavarapu; Gael Nicolas; Alice Goldenberg; Lucie Guyant; Kathleen Pope; Katherine N. Hehmeyer; Kristin G. Monaghan; Annegret Quade; Thomas Smol; Roseline Caumes; Sarah Duerinckx; Chantal Depondt; Wim Van Paesschen; Claudine Rieubland; Claudia Poloni; Michel Guipponi; Severine Arcioni; Marije Meuwissen; Anna C. Jansen; Jessica Rosenblum; Tobias B. Haack; Miriam Bertrand; Lea Gerstner; Janine Magg; Olaf Riess; Jörg B. Schulz; Norbert Wagner; Martin Wiesmann; Joachim Weis; Thomas Eggermann; Matthias Begemann; Andreas Roos; Martin Häusler; Tim Schedl; Marco Tartaglia; Juliane Bremer; Stephen C. Pak; Judith Frydman; Miriam Elbracht; Ingo Kurth
Science
Academic Journal
Caroline Nava; Benjamin Cogne; Amandine Santini; Elsa Leitão; François Lecoquierre; Yuyang Chen; Sarah L. Stenton; Thomas Besnard; Solveig Heide; Sarah Baer; Abhilasha Jakhar; Sonja Neuser; Boris Keren; Anne Faudet; Sylvie Forlani; Marie Faoucher; Kevin Uguen; Konrad Platzer; Alexandra Afenjar; Jean-Luc Alessandri; Stephanie Andres; Chloé Angelini; Bernard Aral; Benoit Arveiler; Tania Attie-Bitach; Marion Aubert Mucca; Guillaume Banneau; Tahsin Stefan Barakat; Giulia Barcia; Stéphanie Baulac; Claire Beneteau; Fouzia Benkerdou; Virginie Bernard; Stéphane Bézieau; Dominique Bonneau; Marie-Noelle Bonnet-Dupeyron; Simon Boussion; Odile Boute; Elise Brischoux-Boucher; Samantha J. Bryen; Julien Buratti; Tiffany Busa; Almuth Caliebe; Yline Capri; Kévin Cassinari; Roseline Caumes; Camille Cenni; Pascal Chambon; Perrine Charles; John Christodoulou; Cindy Colson; Solène Conrad; Auriane Cospain; Juliette Coursimault; Thomas Courtin; Madeline Couse; Charles Coutton; Isabelle Creveaux; Alissa M. D’Gama; Benjamin Dauriat; Jean-Madeleine de Sainte Agathe; Giulia Del Gobbo; Andrée Delahaye-Duriez; Julian Delanne; Anne-Sophie Denommé-Pichon; Anne Dieux-Coeslier; Laura Do Souto Ferreira; Martine Doco-Fenzy; Stephan Drukewitz; Véronique Duboc; Christèle Dubourg; Yannis Duffourd; David Dyment; Salima El Chehadeh; Monique Elmaleh; Laurence Faivre; Samuel Fennelly; Hanna Fischer; Mélanie Fradin; Camille Galludec Vaillant; Benjamin Ganne; Jamal Ghoumid; Himanshu Goel; Zeynep Gokce-Samar; Alice Goldenberg; Romain Gonfreville Robert; Svetlana Gorokhova; Louise Goujon; Victoria Granier; Mathilde Gras; John M. Greally; Bianca Greiten; Paul Gueguen; Anne-Marie Guerrot; Saurav Guha; Anne Guimier; Tobias B. Haack; Hamza Hadj Abdallah; Yosra Halleb; Radu Harbuz; Madeleine Harris; Julia Hentschel; Bénédicte Héron; Marc-Phillip Hitz; A. Micheil Innes; Vincent Jadas; Louis Januel; Nolwenn Jean-Marçais; Vaidehi Jobanputra; Florence Jobic; Ludmila Jornea; Céline Jost; Sophie Julia; Frank J. Kaiser; Daniel Kaschta; Sabine Kaya; Petra Ketteler; Bochra Khadija; Fabian Kilpert; Cordula Knopp; Florian Kraft; Ilona Krey; Marilyn Lackmy; Fanny Laffargue; Laetitia Lambert; Ryan Lamont; Vincent Laugel; Steven Laurie; Julie L. Lauzon; Louis Lebreton; Marine Lebrun; Marine Legendre; Eric Leguern; Daphné Lehalle; Elodie Lejeune; Gaetan Lesca; Marion Lesieur-Sebellin; Jonathan Levy; Agnès Linglart; Stanislas Lyonnet; Kevin Lüthy; Alan S. Ma; Corinne Mach; Jean-Louis Mandel; Lamisse Mansour-Hendili; Julien Marcadier; Victor Marin; Henri Margot; Valentine Marquet; Angèle May; Johannes A. Mayr; Catherine Meridda; Vincent Michaud; Caroline Michot; Gwenael Nadeau; Sophie Naudion; Laetitia Nguyen; Mathilde Nizon; Frédérique Nowak; Sylvie Odent; Valerie Olin; Ikeoluwa A. Osei-Owusu; Matthew Osmond; Katrin Õunap; Laurent Pasquier; Sandrine Passemard; Melissa Pauly; Olivier Patat; Marine Pensec; Laurence Perrin-Sabourin; Florence Petit; Christophe Philippe; Marc Planes; Annapurna Poduri; Céline Poirsier; Antoine Pouzet; Bradley Prince; Clément Prouteau; Aurora Pujol; Caroline Racine; Mélanie Rama; Francis Ramond; Kara Ranguin; Margaux Raway; André Reis; Mathilde Renaud; Nicole Revencu; Anne-Claire Richard; Lucile Riera-Navarro; Rocio Rius; Diana Rodriguez; Agustí Rodriguez-Palmero; Sophie Rondeau; Annika Roser-Unruh; Christelle Rougeot Jung; Hana Safraou; Véronique Satre; Pascale Saugier-Veber; Clément Sauvestre; Elise Schaefer; Wanqing Shao; Ina Schanze; Jan-Ulrich Schlump; Agatha Schlüter Martin; Caroline Schluth-Bolard; Sarah Schuhmann; Christopher Schröder; Monisha Sebastin; Sabine Sigaudy; Malte Spielmann; Marta Spodenkiewicz; Laura St Clair; Julie Steffann; Radka Stoeva; Harald Surowy; Mark A. Tarnopolsky; Calina Todosi; Annick Toutain; Frédéric Tran Mau-Them; Astrid Unterlauft; Julien Van-Gils; Clémence Vanlerberghe; Georgia Vasileiou; Gabriella Vera; André Verdel; Alain Verloes; Yoann Vial; Cédric Vignal; Marie Vincent; Catherine Vincent-Delorme; Aline Vincent-Devulder; Antonio Vitobello; Sacha Weber; Marjolaine Willems; Khaoula Zaafrane-Khachnaoui; Pia Zacher; Lena Zeltner; Alban Ziegler; Wojciech P. Galej; Hélène Dollfus; Christel Thauvin; Kym M. Boycott; Pierre Marijon; Alban Lermine; Valérie Malan; Marlène Rio; Alma Kuechler; Bertrand Isidor; Séverine Drunat; Thomas Smol; Nicolas Chatron; Amélie Piton; Gael Nicolas; Matias Wagner; Rami Abou Jamra; Delphine Héron; Cyril Mignot; Pierre Blanc; Anne O’Donnell-Luria; Nicola Whiffin; Camille Charbonnier; Clément Charenton; Julien Thevenon; Christel Depienne
Nat Genet
Nature Genetics
Nature Genetics
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 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
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Nat. Genet., DOI: 10.1038/s41588-024-01836-1 (2024)
Academic Journal
Kimberley Jade Anderson; Eirny Tholl Thorolfsdottir; Ilana M. Nodelman; Sara Tholl Halldorsdottir; Stefania Benonisdottir; Malak Alghamdi; Naif Almontashiri; Brenda J. Barry; Matthias Begemann; Jacquelyn F. Britton; Sarah Burke; Benjamin Cogne; Ana S.A. Cohen; Carles de Diego Boguñá; Evan E. Eichler; Elizabeth C. Engle; Jill A. Fahrner; Laurence Faivre; Mélanie Fradin; Nico Fuhrmann; Christine W. Gao; Gunjan Garg; Dagmar Grečmalová; Mina Grippa; Jacqueline R. Harris; Kendra Hoekzema; Tova Hershkovitz; Sydney Hubbard; Katrien Janssens; Julie A. Jurgens; Stanislav Kmoch; Cordula Knopp; Meral Aktas Koptagel; Farah A. Ladha; Pablo Lapunzina; Tobias Lindau; Marije Meuwissen; Andreina Minicucci; Emily Neuhaus; Mathilde Nizon; Lenka Nosková; Kristen Park; Chirag Patel; Rolph Pfundt; Pankaj Prasun; Nils Rahner; Nathaniel H. Robin; Carey Ronspies; Jasmin Roohi; Jill Rosenfeld; Margarita Saenz; Carol Saunders; Zornitza Stark; Isabelle Thiffault; Sarah Thull; Danita Velasco; Clara Velmans; Jolijn Verseput; Antonio Vitobello; Tianyun Wang; Karin Weiss; Ingrid M. Wentzensen; Genay Pilarowski; Thor Eysteinsson; Madelyn Gillentine; Kári Stefánsson; Agnar Helgason; Gregory D. Bowman; Hans Tomas Bjornsson
medRxiv
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 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
Academic Journal
Maimuna S. Paul; Sydney L. Michener; Hongling Pan; Hiuling Chan; Jessica M. Pfliger; Jill A. Rosenfeld; Vanesa C. Lerma; Alyssa Tran; Megan A. Longley; Richard A. Lewis; Monika Weisz-Hubshman; Mir Reza Bekheirnia; Nasim Bekheirnia; Lauren Massingham; Michael Zech; Matias Wagner; Hartmut Engels; Kirsten Cremer; Elisabeth Mangold; Sophia Peters; Jessica Trautmann; Claudia Perne; Jessica L. Mester; Maria J. Guillen Sacoto; Richard Person; Pamela P. McDonnell; Stacey R. Cohen; Laina Lusk; Ana S.A. Cohen; Jean-Baptiste Le Pichon; Tomi Pastinen; Dihong Zhou; Kendra Engleman; Caroline Racine; Laurence Faivre; Sébastien Moutton; Anne-Sophie Denommé-Pichon; Hyun Yong Koh; Annapurna Poduri; Jeffrey Bolton; Cordula Knopp; Dong Sun Julia Suh; Andrea Maier; Mehran Beiraghi Toosi; Ehsan Ghayoor Karimiani; Reza Maroofian; Gerald Bradley Schaefer; Vijayalakshmi Ramakumaran; Pradeep Vasudevan; Benito Banos-Pinero; Alistair T. Pagnamenta; Chitra Prasad; Matthew Osmond; Sarah Schuhmann; Georgia Vasileiou; Sophie Russ-Hall; Ingrid E. Scheffer; Gemma L. Carvill; Heather Mefford; Maria T. Acosta; Margaret Adam; David R. Adams; Raquel L. Alvarez; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennett; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Ivan Chinn; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Heidi Cope; Rosario Corona; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D’Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Marni Falk; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Page C. Goddard; Rena A. Godfrey; Katie Golden-Grant; Alana Grajewski; Don Hadley; Sihoun Hahn; Meghan C. Halley; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Sarah Hutchison; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. 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Am. J. Hum. Genet. 111, 96-118 (2024)
Academic Journal
Yaoxian Xu; Christoph Kuppe; Javier Perales-Patón; Sikander Hayat; Jennifer Kranz; Ali T. Abdallah; James Nagai; Zhijian Li; Fabian Peisker; Turgay Saritas; Maurice Halder; Sylvia Menzel; Konrad Hoeft; Annegien Kenter; Hyojin Kim; Claudia R. C. van Roeyen; Michael Lehrke; Julia Moellmann; Thimoteus Speer; Eva M. Buhl; Remco Hoogenboezem; Peter Boor; Jitske Jansen; Cordula Knopp; Ingo Kurth; Bart Smeets; Eric Bindels; Marlies E. J. Reinders; Carla Baan; Joost Gribnau; Ewout J. Hoorn; Joachim Steffens; Tobias B. Huber; Ivan Costa; Jürgen Floege; Rebekka K. Schneider; Julio Saez-Rodriguez; Benjamin S. Freedman; Rafael Kramann
Nat Genet
Nature Genetics, 54, 11, pp. 1690-1701
Nature Genetics, 54, 11, pp. 1690-1701
Academic Journal
Natja Haag; Ene-Choo Tan; Matthias Begemann; Lars Buschmann; Florian Kraft; Petra Holschbach; Angeline H. M. Lai; Maggie Brett; Ganeshwaran H. Mochida; Stephanie DiTroia; Lynn Pais; Jennifer E. Neil; Muna Al-Saffar; Laila Bastaki; Christopher A. Walsh; Ingo Kurth; Cordula Knopp
Eur J Hum Genet
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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
Thomas Eggermann; Johanna Brück; Cordula Knopp; György Fekete; Christian Kratz; Velibor Tasic; Ingo Kurth; Miriam Elbracht; Katja Eggermann; Matthias Begemann
J Mol Med (Berl)
Academic Journal
Carola Hedberg-Oldfors; Robert Meyer; Kay Nolte; Yassir Abdul Rahim; Christopher Lindberg; Kristjan Karason; Inger Johanne Thuestad; Kittichate Visuttijai; Mats Geijer; Matthias Begemann; Florian Kraft; Eva Lausberg; Lea Hitpass; Rebekka Götzl; Elizabeth J Luna; Hanns Lochmüller; Steffen Koschmieder; Michael Gramlich; Burkhard Gess; Miriam Elbracht; Joachim Weis; Ingo Kurth; Anders Oldfors; Cordula Knopp
Brain
Brain 143(8), 2406-2420 (2020). doi:10.1093/brain/awaa206
Brain 143(8), 2406-2420 (2020). doi:10.1093/brain/awaa206
Academic Journal
Florian Erger; Rajindra P. Aryal; Björn Reusch; Yasuyuki Matsumoto; Robert Meyer; Junwei Zeng; Cordula Knopp; Maxence Noel; Lukas Muerner; Andrea Wenzel; Stefan Kohl; Nikolai Tschernoster; Gunter Rappl; Isabelle Rouvet; Jutta Schröder-Braunstein; Felix S. Seibert; Holger Thiele; Martin G. Häusler; Lutz T. Weber; Maike Büttner-Herold; Miriam Elbracht; Sandra F. Cummings; Janine Altmüller; Sandra Habbig; Richard D. Cummings; Bodo B. Beck
Proc Natl Acad Sci U S A
Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei; Knopp, Cordula; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schröder-Braunstein, Jutta; Seibert, Felix S; Thiele, Holger; Häusler, Martin G; Weber, Lutz T; Büttner-Herold, Maike; ... (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America-PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120
Erger, Florian; Aryal, Rajindra P; Reusch, Björn; Matsumoto, Yasuyuki; Meyer, Robert; Zeng, Junwei; Knopp, Cordula; Noel, Maxence; Muerner, Lukas; Wenzel, Andrea; Kohl, Stefan; Tschernoster, Nikolai; Rappl, Gunter; Rouvet, Isabelle; Schröder-Braunstein, Jutta; Seibert, Felix S; Thiele, Holger; Häusler, Martin G; Weber, Lutz T; Büttner-Herold, Maike; ... (2023). Germline C1GALT1C1 mutation causes a multisystem chaperonopathy. Proceedings of the National Academy of Sciences of the United States of America-PNAS, 120(22), e2211087120. National Academy of Sciences 10.1073/pnas.2211087120
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
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Human Mutation. 35:1542-1542
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