Hasil Pencarian - Steffen Uebe

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  1. 1
    Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases.

    Novel loci for non-syndromic coarctation of the aorta in sporadic and familial cases. oleh Julia Moosmann, Steffen Uebe, Sven Dittrich, André Rüffer, Arif B Ekici, Okan Toka

    Diterbitkan 2015-01-01
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  2. 2
    Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability

    Integrative bioinformatics analysis characterizing the role of EDC3 in mRNA decay and its association to intellectual disability oleh Ute Scheller, Kathrin Pfisterer, Steffen Uebe, Arif B. Ekici, André Reis, Rami Jamra, Fulvia Ferrazzi

    Diterbitkan 2018-04-01
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  3. 3
    Experimental Epileptogenesis in a Cell Culture Model of Primary Neurons from Rat Brain: A Temporal Multi-Scale Study

    Experimental Epileptogenesis in a Cell Culture Model of Primary Neurons from Rat Brain: A Temporal Multi-Scale Study oleh Janos Jablonski, Lucas Hoffmann, Ingmar Blümcke, Anna Fejtová, Steffen Uebe, Arif B. Ekici, Vadym Gnatkovsky, Katja Kobow

    Diterbitkan 2021-11-01
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  4. 4
    High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder

    High resolution chromosomal microarray analysis in paediatric obsessive-compulsive disorder oleh Edna Grünblatt, Beatrice Oneda, Arif B. Ekici, Juliane Ball, Julia Geissler, Steffen Uebe, Marcel Romanos, Anita Rauch, Susanne Walitza

    Diterbitkan 2017-11-01
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  5. 5
    Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability

    Dissecting TSC2-mutated renal and hepatic angiomyolipomas in an individual with ARID1B-associated intellectual disability oleh Bernt Popp, Abbas Agaimy, Cornelia Kraus, Karl X. Knaup, Arif B. Ekici, Steffen Uebe, André Reis, Michael Wiesener, Christiane Zweier

    Diterbitkan 2019-05-01
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  6. 6
    Interspecies Single‐Cell RNA‐Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets

    Interspecies Single‐Cell RNA‐Seq Analysis Reveals the Novel Trajectory of Osteoclast Differentiation and Therapeutic Targets oleh Yasunori Omata, Hiroyuki Okada, Steffen Uebe, Naohiro Izawa, Arif B. Ekici, Kerstin Sarter, Taku Saito, Georg Schett, Sakae Tanaka, Mario M. Zaiss

    Diterbitkan 2022-07-01
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  7. 7
    The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy

    The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy oleh Moritz Hebebrand, Ulrike Hüffmeier, Regina Trollmann, Ute Hehr, Steffen Uebe, Arif B. Ekici, Cornelia Kraus, Mandy Krumbiegel, André Reis, Christian T. Thiel, Bernt Popp

    Diterbitkan 2019-02-01
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  8. 8
    Rare copy number variants are a common cause of short stature.

    Rare copy number variants are a common cause of short stature. oleh Diana Zahnleiter, Steffen Uebe, Arif B Ekici, Juliane Hoyer, Antje Wiesener, Dagmar Wieczorek, Erdmute Kunstmann, André Reis, Helmuth-Guenther Doerr, Anita Rauch, Christian T Thiel

    Diterbitkan 2013-01-01
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  9. 9
    Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria

    Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria oleh Juliane Hoyer, Georgia Vasileiou, Steffen Uebe, Marius Wunderle, Cornelia Kraus, Peter A. Fasching, Christian T. Thiel, Arndt Hartmann, Matthias W. Beckmann, Michael P. Lux, André Reis

    Diterbitkan 2018-09-01
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  10. 10
    DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis

    DNA methylation mediates genotype and smoking interaction in the development of anti-citrullinated peptide antibody-positive rheumatoid arthritis oleh Weida Meng, Zaihua Zhu, Xia Jiang, Chun Lai Too, Steffen Uebe, Maja Jagodic, Ingrid Kockum, Shahnaz Murad, Luigi Ferrucci, Lars Alfredsson, Hejian Zou, Lars Klareskog, Andrew P. Feinberg, Tomas J. Ekström, Leonid Padyukov, Yun Liu

    Diterbitkan 2017-03-01
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  11. 11
    Tumor microenvironment‐dependent epigenetic imprinting in the vasculature predicts colon cancer outcome

    Tumor microenvironment‐dependent epigenetic imprinting in the vasculature predicts colon cancer outcome oleh Elisabeth Naschberger, Maximilian Fuchs, Nicholas Dickel, Meik Kunz, Bernt Popp, Charles Gwellem Anchang, Richard Demmler, Yanmin Lyu, Steffen Uebe, Arif Bülent Ekici, Carol Immanuel Geppert, Arndt Hartmann, Christian Flierl, Katja Petter, Tobias Gass, Simon Völkl, Michael Scharl, Andreas Ramming, Claudia Günther, Susanne Merkel, Vera Simone Schellerer, Michael Stürzl

    Diterbitkan 2023-11-01
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  12. 12
    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) oleh Louise A Stephen, Hasan Tawamie, Gemma M Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Holger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B Ekici, Lynn McTeir, Amy M Fraser, Emma A Hall, Pleasantine Mill, Nicolas Daudet, Courtney Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G Davey, Hanno J Bolz

    Diterbitkan 2015-09-01
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  13. 13
    Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1

    Pseudoexfoliation syndrome-associated genetic variants affect transcription factor binding and alternative splicing of LOXL1 oleh Francesca Pasutto, Matthias Zenkel, Ursula Hoja, Daniel Berner, Steffen Uebe, Fulvia Ferrazzi, Johannes Schödel, Panah Liravi, Mineo Ozaki, Daniela Paoli, Paolo Frezzotti, Takanori Mizoguchi, Satoko Nakano, Toshiaki Kubota, Shinichi Manabe, Erika Salvi, Paolo Manunta, Daniele Cusi, Christian Gieger, Heinz-Erich Wichmann, Tin Aung, Chiea Chuen Khor, Friedrich E. Kruse, André Reis, Ursula Schlötzer-Schrehardt

    Diterbitkan 2017-05-01
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  14. 14
    EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum

    EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum oleh Ulrike Hüffmeier, Cornelia Kraus, Miriam S. Reuter, Steffen Uebe, Mary-Alice Abbott, Syed A. Ahmed, Kristyn L. Rawson, Eileen Barr, Hong Li, Ange-Line Bruel, Laurence Faivre, Frédéric Tran Mau-Them, Christina Botti, Susan Brooks, Kaitlyn Burns, D. Isum Ward, Marina Dutra-Clarke, Julian A. Martinez-Agosto, Hane Lee, Stanley F. Nelson, UCLA California Center for Rare Disease, Pia Zacher, Rami Abou Jamra, Chiara Klöckner, Julie McGaughran, Jürgen Kohlhase, Sarah Schuhmann, Ellen Moran, John Pappas, Annick Raas-Rothschild, Maria J. Guillen Sacoto, Lindsay B. Henderson, Timothy Blake Palculict, Sureni V. Mullegama, Houda Zghal Elloumi, Adi Reich, Samantha A. Schrier Vergano, Erica Wahl, André Reis, Christiane Zweier

    Diterbitkan 2021-03-01
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  15. 15
    Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

    Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries oleh Puya Gharahkhani, Eric Jorgenson, Pirro Hysi, Anthony P. Khawaja, Sarah Pendergrass, Xikun Han, Jue Sheng Ong, Alex W. Hewitt, Ayellet V. Segrè, John M. Rouhana, Andrew R. Hamel, Robert P. Igo, Helene Choquet, Ayub Qassim, Navya S. Josyula, Jessica N. Cooke Bailey, Pieter W. M. Bonnemaijer, Adriana Iglesias, Owen M. Siggs, Terri L. Young, Veronique Vitart, Alberta A. H. J. Thiadens, Juha Karjalainen, Steffen Uebe, Ronald B. Melles, K. Saidas Nair, Robert Luben, Mark Simcoe, Nishani Amersinghe, Angela J. Cree, Rene Hohn, Alicia Poplawski, Li Jia Chen, Shi-Song Rong, Tin Aung, Eranga Nishanthie Vithana, NEIGHBORHOOD consortium, ANZRAG consortium, Biobank Japan project, FinnGen study, UK Biobank Eye and Vision Consortium, GIGA study group, 23 and Me Research Team, Gen Tamiya, Yukihiro Shiga, Masayuki Yamamoto, Toru Nakazawa, Hannah Currant, Ewan Birney, Xin Wang, Adam Auton, Michelle K. Lupton, Nicholas G. Martin, Adeyinka Ashaye, Olusola Olawoye, Susan E. Williams, Stephen Akafo, Michele Ramsay, Kazuki Hashimoto, Yoichiro Kamatani, Masato Akiyama, Yukihide Momozawa, Paul J. Foster, Peng T. Khaw, James E. Morgan, Nicholas G. Strouthidis, Peter Kraft, Jae H. Kang, Chi Pui Pang, Francesca Pasutto, Paul Mitchell, Andrew J. Lotery, Aarno Palotie, Cornelia van Duijn, Jonathan L. Haines, Chris Hammond, Louis R. Pasquale, Caroline C. W. Klaver, Michael Hauser, Chiea Chuen Khor, David A. Mackey, Michiaki Kubo, Ching-Yu Cheng, Jamie E. Craig, Stuart MacGregor, Janey L. Wiggs

    Diterbitkan 2021-02-01
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