検索結果 - Katharina Hohenfellner

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  1. 1
    High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR

    High-throughput genetic newborn screening for spinal muscular atrophy by rapid nucleic acid extraction from dried blood spots and 384-well qPCR 著者: Ludwig Czibere, Siegfried Burggraf, Tobias Fleige, Birgit Glück, Lisa Marie Keitel, Olfert Landt, Jürgen Durner, Wulf Röschinger, Katharina Hohenfellner, Brunhilde Wirth, Wolfgang Müller‐Felber, Katharina Vill, Marc Becker

    出版事項 2019
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    Artigo
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  2. 2
    One Year of Newborn Screening for SMA – Results of a German Pilot Project

    One Year of Newborn Screening for SMA – Results of a German Pilot Project 著者: Katharina Vill, Heike Kölbel, Oliver Schwartz, Astrid Blaschek, Bernhard Olgemöller, Erik Harms, Siegfried Burggraf, Wulf Röschinger, Jürgen Durner, Dieter Gläser, U Nennstiel‐Ratzel, Brunhilde Wirth, Ulrike Schara, Beate Jensen, Marc Becker, Katharina Hohenfellner, Wolfgang Müller‐Felber

    出版事項 2019
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    Artigo
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  3. 3
    Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men

    Role of the Angiotensin Type 2 Receptor Gene in Congenital Anomalies of the Kidney and Urinary Tract, CAKUT, of Mice and Men 著者: Hideki Nishimura, Elizabeth B. Yerkes, Katharina Hohenfellner, Yoichi Miyazaki, Ji Ma, Tracy E. Hunley, Hiroaki Yoshida, Toshihiro Ichiki, David W. Threadgill, John A. Phillips, Brigid M. L. Hogan, Agnes B. Fogo, John W. Brock, Tadashi Inagami, Iekuni Ichikawa

    出版事項 1999
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    Artigo
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  4. 4
    An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis

    An international cohort study spanning five decades assessed outcomes of nephropathic cystinosis 著者: Francesco Emma, William van’t Hoff, Katharina Hohenfellner, Rezan Topaloĝlu, Marcella Greco, Gema Ariceta, Chiara Bettini, Detlef Böckenhauer, Koenraad Veys, Lars Pape, Sally A. Hulton, Suzanne Collin, Fatih Özaltın, Aude Servais, Georges Deschênes, Robert Novo, Aurélia Bertholet‐Thomas, Jun Oh, Marlies Cornelissen, Mirian C. H. Janssen, Dieter Haffner, Lucilla Ravà, Corinne Antignac, Olivier Devuyst, Patrick Niaudet, Elena Levtchenko

    出版事項 2021
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    Artigo
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  5. 5
    Management of bone disease in cystinosis: Statement from an international conference

    Management of bone disease in cystinosis: Statement from an international conference 著者: Katharina Hohenfellner, Frank Rauch, Gema Ariceta, Atif Awan, Justine Bacchetta, Carsten Bergmann, Susanne Bechtold, Noelle Cassidy, Geroges Deschenes, Ewa Elenberg, William A. Gahl, Oliver Greil, Erik Harms, Nadine Herzig, Bernd Höppe, Christian Koeppl, Malcolm Lewis, Elena Levtchenko, Galina Nesterova, Fernando Santos, Karl P. Schlingmann, Aude Servais, Neveen A. Soliman, Guenther Steidle, Clodagh Sweeney, Ulrike Treikauskas, Rezan Topaloĝlu, А.Н. Цыгин, Koenraad Veys, Rodo von Vigier, Jozef Zustin, Dieter Haffner

    出版事項 2019
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    Artigo
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  6. 6
    Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference

    Controversies and research agenda in nephropathic cystinosis: conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference 著者: Craig B. Langman, Bruce A. Barshop, Georges Deschênes, Francesco Emma, Paul Goodyer, Graham Lipkin, Julian Midgley, Chris Ottolenghi, Aude Servais, Neveen A. Soliman, Jess G. Thoene, Elena Levtchenko, Oliver Amon, Gema Ariceta, Maryan Basurto, Leticia Belmont‐Martínez, Aurélia Bertholet‐Thomas, Marjolein Bos, Thomas Brown, Stéphanie Cherqui, Marlies Cornelissen, Monte A. Del Monte, Jie Ding, Ranjan Dohil, Maya Doyle, Ewa Elenberg, William A. Gahl, Víctor Aguado Gómez, Marcella Greco, Christy Greeley, Larry A. Greenbaum, Paul C. Grimm, Katharina Hohenfellner, Teresa M. Holm, Valerie Hotz, Mirian C. H. Janssen, Frederick J. Kaskel, Rita Magriço, Galina Nesterova, Philip Newsholme, Patrick Niaudet, Patrice Rioux, Minnie Sarwal, Jerry A. Schneider, Rezan Topaloĝlu, Doris A. Trauner, María Helena Vaisbich, Lambertus P. van den Heuvel, William van’t Hoff

    出版事項 2016
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    Artigo
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