학술논문
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'학술논문'
에서 검색결과 24건 | 목록
1~20
Academic Journal
Anja Droste; Anna Repczynska; Isabell Popp; Britta Fiebig; Julia Vodopiutz; Andreas-Robert Janecke; Detlev Schindler; Jost Knaup; Regina Hark; Renata Kulka; Alexandra Sobeck; Reinhard Kalb
EJC Paediatric Oncology, Vol 6, Iss , Pp 100337- (2025)
Academic Journal
Silvio Boero; Julia Vodopiutz; Mohamad Maghnie; Josep M. de Bergua; Ignacio Ginebreda; Hiroshi Kitoh; Micha Langendörfer; Antonio Leiva-Gea; Jason Malone; Philip McClure; Gabriel T. Mindler; Dmitry Popkov; Robert Rodl; Pablo Rosselli; Fabio Verdoni; Viktor Vilenskii; Aaron J. Huser
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-15 (2024)
Academic Journal
Stephanie Waich; Karin Kreidl; Julia Vodopiutz; Arzu Meltem Demir; Adam R. Pollio; Vojtěch Dostál; Kristian Pfaller; Marianna Parlato; Nadine Cerf-Bensussan; Rüdiger Adam; Georg F. Vogel; Holm H. Uhlig; Frank M. Ruemmele; Thomas Müller; Michael W. Hess; Andreas R. Janecke; Lukas A. Huber; Taras Valovka
JCI Insight, Vol 10, Iss 6 (2025)
Academic Journal
Jil D. Stegmann; Jeshurun C. Kalanithy; Gabriel C. Dworschak; Nina Ishorst; Enrico Mingardo; Filipa M. Lopes; Yee Mang Ho; Phillip Grote; Tobias T. Lindenberg; Öznur Yilmaz; Khadija Channab; Steve Seltzsam; Shirlee Shril; Friedhelm Hildebrandt; Felix Boschann; André Heinen; Angad Jolly; Katherine Myers; Kim McBride; Mir Reza Bekheirnia; Nasim Bekheirnia; Marcello Scala; Manuela Morleo; Vincenzo Nigro; Annalaura Torella; TUDP consortium; Michele Pinelli; Valeria Capra; Andrea Accogli; Silvia Maitz; Alice Spano; Rory J. Olson; Eric W. Klee; Brendan C. Lanpher; Se Song Jang; Jong-Hee Chae; Philipp Steinbauer; Dietmar Rieder; Andreas R. Janecke; Julia Vodopiutz; Ida Vogel; Jenny Blechingberg; Jennifer L. Cohen; Kacie Riley; Victoria Klee; Laurence E. Walsh; Matthias Begemann; Miriam Elbracht; Thomas Eggermann; Arzu Stoppe; Kyra Stuurman; Marjon van Slegtenhorst; Tahsin Stefan Barakat; Maureen S. Mulhern; Tristan T. Sands; Cheryl Cytrynbaum; Rosanna Weksberg; Federica Isidori; Tommaso Pippucci; Giulia Severi; Francesca Montanari; Michael C. Kruer; Somayeh Bakhtiari; Hossein Darvish; Heiko Reutter; Gregor Hagelueken; Matthias Geyer; Adrian S. Woolf; Jennifer E. Posey; James R. Lupski; Benjamin Odermatt; Alina C. Hilger
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-12 (2024)
Academic Journal
Marlene Panzer; André Viveiros; Benedikt Schaefer; Nadja Baumgartner; Klaus Seppi; Atbin Djamshidian; Theodor Todorov; William J. H. Griffiths; Eckart Schott; Markus Schuelke; Dennis Eurich; Albert Friedrich Stättermayer; Adrian Bomford; Pierre Foskett; Julia Vodopiutz; Rudolf Stauber; Elke Pertler; Bernhard Morell; Herbert Tilg; Thomas Müller; Stefan Kiechl; Raul Jimenez‐Heredia; Karl Heinz Weiss; Si Houn Hahn; Andreas Janecke; Peter Ferenci; Heinz Zoller
Hepatology Communications, Vol 6, Iss 7, Pp 1611-1619 (2022)
Academic Journal
Eric J. R. Jansen; Sharita Timal; Margret Ryan; Angel Ashikov; Monique van Scherpenzeel; Laurie A. Graham; Hanna Mandel; Alexander Hoischen; Theodore C. Iancu; Kimiyo Raymond; Gerry Steenbergen; Christian Gilissen; Karin Huijben; Nick H. M. van Bakel; Yusuke Maeda; Richard J. Rodenburg; Maciej Adamowicz; Ellen Crushell; Hans Koenen; Darius Adams; Julia Vodopiutz; Susanne Greber-Platzer; Thomas Müller; Gregor Dueckers; Eva Morava; Jolanta Sykut-Cegielska; Gerard J. M. Martens; Ron A. Wevers; Tim Niehues; Martijn A. Huynen; Joris A. Veltman; Tom H. Stevens; Dirk J. Lefeber
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Academic Journal
Felix Röttele; Andreas Zollner; Carolin Mogler; Muhammed Yuksel; Cigdem Arikan; Vivien Karl; Judith Helene Aberle; Stephan W Aberle; Hubert Kogler; Andreas Vécsei; Julia Vodopiutz; Henrike Salié; Anne Gräser; Laurenz Krimmel; Pius Martin; Eberhard Lurz; Felix Immanuel Maier; Lena Woelfle; Susana Nobre; Isabel Goncalves; Lisa Kern; Martin Schwemmle; Tobias Boettler; Maike Hofmann; Peter Hasselblatt; Robert Thimme; Herbert Tilg; Thomas Müller; Georg Friedrich Vogel; Bertram Bengsch
Gut
Academic Journal
Georg‐Friedrich Vogel; Alexandra Podpeskar; Dietmar Rieder; Helin Salzer; Dorota Garczarczyk‐Asim; Li Wang; Kuerbanjiang Abuduxikuer; Jian‐She Wang; Anke Scharrer; Eissa Ali Faqeih; Ali T. Aseeri; Julia Vodopiutz; Andreas Heilos; Judith Pichler; Wolf‐Dietrich Huber; Thomas Müller; A. S. Knisely; Andreas R. Janecke
Clinical Genetics. 106:224-233
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea A. Weiss; Christina A. Gurnett; Anne Marie Jelsig; Susanne H. Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair T. Pagnamenta; Simone Race; Siddharth Srivastava; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda M. Reis; Elena V. Semina; Miriam S. Reuter; Stephen W. Scherer; Maria Iascone; Denisa Weis; Christina R. Fagerberg; Charlotte Brasch-Andersen; Lars Kjaersgaard Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias B. Haack; Despoina C. Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas R. Janecke; Tzung-Chien Hsieh; Hellen Lesmann; Hannah Klinkhammer; Peter M. Krawitz; Johannes R. Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Eur J Hum Genet
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
European journal of human genetics, vol. 31, no. 11, pp. 1251-1260
Oppermann, H, Marcos-Grañeda, E, Weiss, L A, Gurnett, C A, Jelsig, A M, Vineke, S H, Isidor, B, Mercier, S, Magnussen, K, Zacher, P, Hashim, M, Pagnamenta, A T, Race, S, Srivastava, S, Frazier, Z, Maiwald, R, Pergande, M, Milani, D, Rinelli, M, Levy, J, Krey, I, Fontana, P, Lonardo, F, Riley, S, Kretzer, J, Rankin, J, Reis, L M, Semina, E V, Reuter, M S, Scherer, S W, Iascone, M, Weis, D, Fagerberg, C R, Brasch-Andersen, C, Hansen, L K, Kuechler, A, Noble, N, Gardham, A, Tenney, J, Rathore, G, Beck-Woedl, S, Haack, T B, Pavlidou, D C, Atallah, I, Vodopiutz, J, Janecke, A R, Hsieh, T-C, Lesmann, H, Klinkhammer, H, Krawitz, P M, Lemke, J R, Jamra, R A, Nieto, M, Tümer, Z & Platzer, K 2023, ' CUX1-related neurodevelopmental disorder : deep insights into phenotype-genotype spectrum and underlying pathology ', European journal of human genetics : EJHG, vol. 31, no. 11, pp. 1251-1260 . https://doi.org/10.1038/s41431-023-01445-2
Academic Journal
Markus Breu; Chiara Häfele; Petra Trimmel‐Schwahofer; Wolfgang M. Schmidt; Franco Laconne; Julia Vodopiutz; Christoph Male; Anastasia Dressler
Epilepsia
Academic Journal
Shuji Mizumoto; Andreas R. Janecke; Azita Sadeghpour; Gundula Povysil; Marie T. McDonald; Sheila Unger; Susanne Greber‐Platzer; Kristen L. Deak; Nicholas Katsanis; Andrea Superti‐Furga; Kazuyuki Sugahara; Erica E. Davis; Shuhei Yamada; Julia Vodopiutz
Hum Mutat
Human mutation, vol. 41, no. 3, pp. 655-667
Human mutation, vol. 41, no. 3, pp. 655-667
Academic Journal
Henry Oppermann; Elia Marcos-Grañeda; Linnea Weiss; Christina Gurnett; Anne Marie Jelsig; Susanne Vineke; Bertrand Isidor; Sandra Mercier; Kari Magnussen; Pia Zacher; Mona Hashim; Alistair Pagnamenta; Simone Race; Siddharth Srivast; Zoë Frazier; Robert Maiwald; Matthias Pergande; Donatella Milani; Martina Rinelli; Jonathan Levy; Ilona Krey; Paolo Fontana; Fortunato Lonardo; Stephanie Riley; Jasmine Kretzer; Julia Rankin; Linda Reis; Elena Semina; Miriam Reuter; Stephen Scherer; Maria Iascone; Denisa Weis; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Hansen; Alma Kuechler; Nathan Noble; Alice Gardham; Jessica Tenney; Geetanjali Rathore; Stefanie Beck-Woedl; Tobias Haack; Despina Pavlidou; Isis Atallah; Julia Vodopiutz; Andreas Janecke; Johannes Lemke; Rami Abou Jamra; Marta Nieto; Zeynep Tümer; Konrad Platzer
Academic Journal
Lasse Holt-Danborg; Julia Vodopiutz; Annika W Nonboe; Jan De Laffolie; Signe Skovbjerg; Victorien M Wolters; Thomas Müller; Benjamin Hetzer; Alexander Querfurt; Klaus-Peter Zimmer; Jan K Jensen; Andreas Entenmann; Peter Heinz-Erian; Lotte K Vogel; Andreas R Janecke
Holt-Danborg, L, Vodopiutz, J, Nonboe, A W, De Laffolie, J, Skovbjerg, S, Wolters, V M, Mueller, T, Hetzer, B, Querfurt, A, Zimmer, K-P, Jensen, J K, Entenmann, A, Heinz-Erian, P, Vogel, L K & Janecke, A R 2019, 'SPINT2 (HAI-2) missense variants identified in congenital sodium diarrhea/tufting enteropathy affect the ability of HAI-2 to inhibit prostasin but not matriptase', Human Molecular Genetics, vol. 28, no. 5, pp. 828-841. https://doi.org/10.1093/hmg/ddy394
Academic Journal
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18:133-135
Academic Journal
JDDG: Journal der Deutschen Dermatologischen Gesellschaft. 18:133-135
Academic Journal
Julia Vodopiutz; Lisa-Maria Steurer; Florentina Haufler; Franco Laccone; Dorota Garczarczyk-Asim; Matthias Hilkenmeier; Philipp Steinbauer; Andreas R. Janecke
Genes (Basel)
Genes; Volume 14; Issue 4; Pages: 877
Genes; Volume 14; Issue 4; Pages: 877
Academic Journal
Linguistische Berichte (LB). 2002:81-104
Academic Journal
Sandy Siegert; Gabriel T. Mindler; Christof Brücke; Andreas Kranzl; Janina Patsch; Markus Ritter; Andreas R. Janecke; Julia Vodopiutz
Genes (Basel)
Genes
Volume 12
Issue 11
Genes
Volume 12
Issue 11
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