학술논문
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'학술논문'
에서 검색결과 27건 | 목록
1~20
Academic Journal
Gülsah Aydin; Gabriele Dekomien; Sabine Hoffjan; Wanda Maria Gerding; Jörg T. Epplen; Larissa Arning
BMC Neurology, Vol 18, Iss 1, Pp 1-8 (2018)
Academic Journal
Paloma Gómez-Fernández; Aitzkoa Lopez de Lapuente Portilla; Ianire Astobiza; Jorge Mena; Andoni Urtasun; Vivian Altmann; Fuencisla Matesanz; David Otaegui; Elena Urcelay; Alfredo Antigüedad; Sunny Malhotra; Xavier Montalban; Tamara Castillo-Triviño; Laura Espino-Paisán; Orhan Aktas; Mathias Buttmann; Andrew Chan; Bertrand Fontaine; Pierre-Antoine Gourraud; Michael Hecker; Sabine Hoffjan; Christian Kubisch; Tania Kümpfel; Felix Luessi; Uwe K. Zettl; Frauke Zipp; Iraide Alloza; Manuel Comabella; Christina M. Lill; Koen Vandenbroeck
Cells, Vol 9, Iss 1, p 175 (2020)
Academic Journal
Martin Munteanu; Elisabeth Resch; Victor Bildheim; Sabine Hoffjan; Bernhard Erdlenbruch; Agnès Linglart; Corinna Grasemann
Hormone Research in Paediatrics. :1-15
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
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
Thilo Gambichler; Sabine Hoffjan; Mato Nagel; Meike Terschlüsen; Rita Mansour; Lina Würfel; Klaus Hoffmann; Laura Susok; Heinrich Dickel; Martin Doerler
Clinical and Experimental Dermatology. 48:1198-1201
Academic Journal
Leon Rossler; Stefan Lemburg; Almut Weitkämper; Charlotte Thiels; Sabine Hoffjan; Huu Phuc Nguyen; Thomas Lücke; Christoph M. Heyer
J Ultrasound
Academic Journal
Anne-Sophie Biesalski; Sabine Hoffjan; Ruth Schneider; Huu Phuc Nguyen; Gabriele Dekomien; Thomas Lücke; Christiane Schneider-Gold; Britta Matusche; Ralf Gold; Ilya Ayzenberg
J Neurol
Academic Journal
Anne Gregor; Tanja Meerbrei; Thorsten Gerstner; Annick Toutain; Sally Ann Lynch; Karen Stals; Caroline Maxton; Johannes R Lemke; John A Bernat; Hannah M Bombei; Nicola Foulds; David Hunt; Alma Kuechler; Jasmin Beygo; Petra Stöbe; Arjan Bouman; Maria Palomares-Bralo; Fernando Santos-Simarro; Sixto Garcia-Minaur; Marta Pacio-Miguez; Bernt Popp; Georgia Vasileiou; Moritz Hebebrand; André Reis; Sarah Schuhmann; Mandy Krumbiegel; Natasha J Brown; Peter Sparber; Lyusya Melikyan; Liudmila Bessonova; Tatiana Cherevatova; Artem Sharkov; Natalia Shcherbakova; Tabib Dabir; Usha Kini; Eva M C Schwaibold; Tobias B Haack; Marta Bertoli; Sabine Hoffjan; Ruth Falb; Marwan Shinawi; Heinrich Sticht; Christiane Zweier
Hum Mol Genet
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Human Molecular Genetics
Gregor, Anne; Meerbrei, Tanja; Gerstner, Thorsten; Toutain, Annick; Lynch, Sally Ann; Stals, Karen; Maxton, Caroline; Lemke, Johannes R; Bernat, John A; Bombei, Hannah M; Foulds, Nicola; Hunt, David; Kuechler, Alma; Beygo, Jasmin; Stöbe, Petra; Bouman, Arjan; Palomares-Bralo, Maria; Santos-Simarro, Fernando; Garcia-Minaur, Sixto; Pacio-Miguez, Marta; ... (2022). De novo missense variants in FBXO11 alter its protein expression and subcellular localization. Human molecular genetics, 31(3), pp. 440-454. Oxford University Press 10.1093/hmg/ddab265
Human Molecular Genetics
Academic Journal
Sören Janßen; Leoni S. Erbe; Moritz Kneifel; Matthias Vorgerd; Kristina Döring; Krzysztof P. Lubieniecki; Joanna M. Lubieniecka; Wanda M. Gerding; Nicolas Casadei; Anne-Katrin Güttsches; Christoph Heyer; Thomas Lücke; Hoa Huu Phuc Nguyen; Cornelia Köhler; Sabine Hoffjan
Int J Mol Sci
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
Rosa Catalina Lederbogen; Sabine Hoffjan; Charlotte Thiels; Ulrike Angelika Mau-Holzmann; Sylke Singer; Maria Viktorovna Yusenko; Hoa Huu Phuc Nguyen; Wanda Maria Gerding
Genes (Basel)
Academic Journal
Leoni S. Erbe; Sabine Hoffjan; Sören Janßen; Moritz Kneifel; Karsten Krause; Wanda M. Gerding; Kristina Döring; Anne-Katrin Güttsches; Andreas Roos; Elena Buena Atienza; Caspar Gross; Thomas Lücke; Hoa Huu Phuc Nguyen; Matthias Vorgerd; Cornelia Köhler
Int J Mol Sci
Academic Journal
Stefanie Spiegler; Matthias Rath; Sabine Hoffjan; Philipp Dammann; Ulrich Sure; Axel Pagenstecher; Tim Strom; Ute Felbor
Neurogenetics 19, 55–59 (2018)
Academic Journal
Aysegül Ibisler; Sebastian Ocklenburg; Susanne Stemmler; Larissa Arning; Jörg T. Epplen; Carsten Saft; Sabine Hoffjan
Journal of Genetic Counseling. 26:1029-1040
Book
Springer Reference Medizin ISBN: 9783642546723
Springer Reference Medizin ISBN: 9783662651841
Springer Reference Medizin ISBN: 9783662651841
Academic Journal
Andreas Unger; Andreas Roos; Andrea Gangfuß; Andreas Hentschel; Dieter Gläser; Karsten Krause; Kristina Doering; Ulrike Schara-Schmidt; Sabine Hoffjan; Matthias Vorgerd; Anne-Katrin Güttsches
Int J Mol Sci
International Journal of Molecular Sciences; Volume 24; Issue 7; Pages: 6808
International Journal of Molecular Sciences; Volume 24; Issue 7; Pages: 6808
Academic Journal
Francis Ramond; Caroline Dalgliesh; Mona Grimmel; Oded Wechsberg; Annalisa Vetro; Renzo Guerrini; David FitzPatrick; Rebecca L Poole; Marine Lebrun; Allan Bayat; Ute Grasshoff; Miriam Bertrand; Dennis Witt; Peter D Turnpenny; Víctor Faundes; Lorena Santa María; Carolina Mendoza Fuentes; Paulina Mabe; Shaun A Hussain; Sureni V Mullegama; Erin Torti; Barbara Oehl-Jaschkowitz; Lina Basel Salmon; Naama Orenstein; Noa Ruhrman Shahar; Ofir Hagari; Lily Bazak; Sabine Hoffjan; Carlos E Prada; Tobias Haack; David J Elliott
Genetics in Medicine. 25:100003
Academic Journal
Clinical Neuroradiology. 27:481-483
Academic Journal
Molecular Syndromology. 6:173-180
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[AR] Sabine Hoffjan
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