檢索結果 - Boris Utsch

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  1. 1
    Urinalysis in Children and Adolescents

    Urinalysis in Children and Adolescents 由 Boris Utsch, Günter Klaus

    出版 2014
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  2. 2
    Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

    Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome 由 Boris Utsch, John A. Sayer, Massimo Attanasio, Rob Rodrigues Pereira, Michael R. Eccles, Hans-Christian Hennies, Edgar A. Otto, Friedhelm Hildebrandt

    出版 2005
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  3. 3
    Evidence of Oligogenic Inheritance in Nephronophthisis

    Evidence of Oligogenic Inheritance in Nephronophthisis 由 Julia Hoefele, Matthias T. F. Wolf, John F. O’Toole, Edgar A. Otto, Ulla T. Schultheiß, Georges DeCombining Circumflex Accentschenes, Massimo Attanasio, Boris Utsch, Corinne Antignac, Friedhelm Hildebrandt

    出版 2007
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  4. 4
    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome

    Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior Loken syndrome 由 Josiane Hélou, Edgar A. Otto, Massimo Attanasio, S. J. Allen, Melissa A. Parisi, Ian Glass, Boris Utsch, S. Hashmi, Elisa Fazzi, Heymut Omran, John F. O’Toole, John A. Sayer, Friedhelm Hildebrandt

    出版 2007
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  5. 5
    Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11)

    Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11) 由 Edgar A. Otto, Kálmán Tory, Massimo Attanasio, Weibin Zhou, Moumita Chaki, Yasaswi Paruchuri, Eric L. Wise, M T F Wolf, Boris Utsch, C. Becker, Gudrun Nürnberg, Peter Nürnberg, Ahmet Nayır, Sophie Saunier, Corinne Antignac, Friedhelm Hildebrandt

    出版 2009
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  6. 6
    Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex

    Epidemiological Survey of 214 Families With Bladder Exstrophy-Epispadias Complex 由 Lisa Gambhir, Tobias Höller, Martín Müller, G. Schott, Hannes Vogt, B. Detlefsen, A. Ebert, Margit Fisch, Sylvie Beaudoın, Raimund Stein, Simeon A. Boyadjiev, John P. Gearhart, Wolfgang Rösch, Boris Utsch, Thomas M. Boemers, Heiko Reutter, Michael Ludwig

    出版 2008
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  7. 7
    Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy

    Genome-wide Association Study and Meta-Analysis Identify ISL1 as Genome-wide Significant Susceptibility Gene for Bladder Exstrophy 由 Markus Draaken, Michael Knapp, Tracie Pennimpede, Johanna Magdalena Schmidt, Anne‐Karolin Ebert, Wolfgang Rösch, Raimund Stein, Boris Utsch, Karin Hirsch, Thomas M. Boemers, Elisabeth Mangold, Stefanie Heilmann‐Heimbach, Kerstin U. Ludwig, Ekkehart Jenetzky, Nadine Zwink, Susanne Moebus, Bernhard G. Herrmann, Manuel Mattheisen, Markus M. Nöthen, Michael Ludwig, Heiko Reutter

    出版 2015
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