Ngā hua rapu - Sabine Rudnik

Whakamahine hua
  1. 1
    Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur Padiatrische Nephrologie.

    Childhood onset autosomal dominant polycystic kidney disease in sibs: clinical picture and recurrence risk. German Working Group on Paediatric Nephrology (Arbeitsgemeinschaft fur P... mā Klaus Zerres, Sabine Rudnik–Schöneborn, Felicitas Deget

    I whakaputaina 1993
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  2. 2
    Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease?

    Spinal muscular atrophy: a motor neuron disorder or a multi‐organ disease? mā Monir Shababi, Christian L. Lorson, Sabine Rudnik–Schöneborn

    I whakaputaina 2013
    Whiwhi kuputuhi katoa
    Revisão
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  3. 3
    Determination of SMN1 and SMN2 copy number using TaqMan™ technology

    Determination of SMN1 and SMN2 copy number using TaqMan™ technology mā Dirk Anhuf, Thomas Eggermann, Sabine Rudnik–Schöneborn, Klaus Zerres

    I whakaputaina 2003
    Whiwhi kuputuhi katoa
    Artigo
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  4. 4
    Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA)

    Missense Mutations in Exon 6 of the Survival Motor Neuron Gene in Patients with Spinal Muscular Atrophy (SMA) mā Eric Hahnen, Jutta Schönling, Sabine Rudnik–Schöneborn, H. Raschke, Klaus Zerres, Brunhilde Wirth

    I whakaputaina 1997
    Whiwhi kuputuhi katoa
    Artigo
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  5. 5
    De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling

    De Novo Rearrangements Found in 2% of Index Patients with Spinal Muscular Atrophy: Mutational Mechanisms, Parental Origin, Mutation Rate, and Implications for Genetic Counseling mā Brunhilde Wirth, Thorsten Schmidt, Eric Hahnen, Sabine Rudnik–Schöneborn, Michael Krawczak, Bertram Müller-Myhsok, Jutta Schönling, Klaus Zerres

    I whakaputaina 1997
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  6. 6
    Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implications for Genetic Counseling

    Quantitative Analysis of Survival Motor Neuron Copies: Identification of Subtle SMN1 Mutations in Patients with Spinal Muscular Atrophy, Genotype-Phenotype Correlation, and Implica... mā Brunhilde Wirth, Micaela A. Godoy Herz, A Wetter, S. Moskau, Eric Hahnen, Sabine Rudnik–Schöneborn, T. F. Wienker, Klaus Zerres

    I whakaputaina 1999
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  7. 7
    A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD)

    A mouse model for cystic biliary dysgenesis in autosomal recessive polycystic kidney disease (ARPKD) mā Markus Moser, Sonja Matthiesen, Jutta Kirfel, Hubert Schorle, Carsten Bergmann, Jan Senderek, Sabine Rudnik–Schöneborn, Klaus Zerres, Reinhard Buettner

    I whakaputaina 2005
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  8. 8
    Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15

    Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15 mā Jan Senderek, Carsten Bergmann, Susanne N. Weber, Uwe‐Peter Ketelsen, Hubert Schorle, Sabine Rudnik–Schöneborn, Reinhard Büttner, Eckhard Buchheim, Klaus Zerres

    I whakaputaina 2003
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  9. 9
    <i>PKHD1</i>mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)

    <i>PKHD1</i>mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD) mā Carsten Bergmann, Jan Senderek, Frank Schneider, Christian Dornia, Fabian Küpper, Thomas Eggermann, Sabine Rudnik–Schöneborn, Jutta Kirfel, Markus Moser, Reinhard Büttner, Klaus Zerres

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Artigo
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  10. 10
    Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21

    Diaphragmatic Spinal Muscular Atrophy with Respiratory Distress Is Heterogeneous, and One Form Is Linked to Chromosome 11q13-q21 mā Katja Grohmann, Thomas F. Wienker, Kathrin Saar, Sabine Rudnik–Schöneborn, Gisela Stoltenburg‐Didinger, Rainer Rossi, Giuseppe Novelli, Gudrun Nürnberg, Arne Pfeufer, Brunhilde Wirth, André Reis, Klaus Zerres, Christoph Hübner

    I whakaputaina 1999
    Whiwhi kuputuhi katoa
    Carta
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  11. 11
    Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex

    Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in-frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex mā Sonja Stahl, Sabine Gaetzner, Katrin Voß, Bettina Brackertz, Elisa Schleider, Oǧuzkan Sürücü, E. Kunze, Christian Netzer, Christoph Korenke, Ulrich Finckh, Mario Habek, Zdravka Poljaković, Miriam Elbracht, Sabine Rudnik–Schöneborn, Helmut Bertalanffy, Ulrich Sure, Ute Felbor

    I whakaputaina 2008
    Whiwhi kuputuhi katoa
    Artigo
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  12. 12
    Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD)

    Clinical consequences of PKHD1 mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD) mā Carsten Bergmann, Jan Senderek, Ellen Windelen, Fabian Küpper, Iris Middeldorf, Frank Schneider, Christian Dornia, Sabine Rudnik–Schöneborn, Martin Konrad, Claus Peter Schmitt, Tomáš Seeman, Thomas J. Neuhaus, Udo Vester, Jutta Kirfel, Reinhard Büttner, Klaus Zerres

    I whakaputaina 2005
    Whiwhi kuputuhi katoa
    Artigo
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  13. 13
    Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050)

    Recurrent Miscarriage: Diagnostic and Therapeutic Procedures. Guideline of the DGGG, OEGGG and SGGG (S2k-Level, AWMF Registry Number 015/050) mā Bettina Tóth, W. Würfel, Michael K. Bohlmann, Johannes Zschocke, Sabine Rudnik–Schöneborn, Frank Nawroth, E Schleußner, Nina Rogenhofer, Tewes Wischmann, Michael von Wolff, Katharina Hancke, Sören von Otte, Ruben Kuon, Katharina Feil, Clemens Tempfer

    I whakaputaina 2018
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  14. 14
    Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1)

    Spectrum of Mutations in the Gene for Autosomal Recessive Polycystic Kidney Disease (ARPKD/PKHD1) mā Carsten Bergmann, Jan Senderek, Beate Sedlacek, Ioannis Pegiazoglou, Patricia Puglia, Thomas Eggermann, Sabine Rudnik-Sch�neborn, Laszlo Furu, Luiz F. Onuchic, Monica de Baca, Gregory G. Germino, Lisa M. Guay‐Woodford, Stefan Somlo, Markus Moser, Reinhard BuCombining Diaeresisttner, Klaus Zerres

    I whakaputaina 2003
    Whiwhi kuputuhi katoa
    Artigo
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  15. 15
    PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta-Helix 1 Repeats

    PKHD1, the Polycystic Kidney and Hepatic Disease 1 Gene, Encodes a Novel Large Protein Containing Multiple Immunoglobulin-Like Plexin-Transcription–Factor Domains and Parallel Beta... mā Luiz F. Onuchic, Laszlo Furu, Yasuyuki Nagasawa, Xiaoying Hou, Thomas Eggermann, Zhiyong Ren, Carsten Bergmann, Jan Senderek, Ernie Esquivel, Raoul Zeltner, Sabine Rudnik–Schöneborn, Michael Mrug, William E. Sweeney, Ellis D. Avner, Klaus Zerres, Lisa M. Guay‐Woodford, Stefan Somlo, Gregory G. Germino

    I whakaputaina 2002
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  16. 16
    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia

    Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia mā Jijun Wan, Janos Steffen, Michael Yourshaw, Hafsa Mamsa, Erik Andersen, Sabine Rudnik–Schöneborn, Kate Pope, Katherine B. Howell, Catriona McLean, Andrew J. Kornberg, Jörg Joseph, Paul J. Lockhart, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Carla M. Koehler, Joanna C. Jen

    I whakaputaina 2016
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  17. 17
    <i>PKHD1</i>mutations in autosomal recessive polycystic kidney disease (ARPKD)

    <i>PKHD1</i>mutations in autosomal recessive polycystic kidney disease (ARPKD) mā Carsten Bergmann, Jan Senderek, Fabian Küpper, Frank Schneider, Christian Dornia, Ellen Windelen, Thomas Eggermann, Sabine Rudnik–Schöneborn, Jutta Kirfel, Laszlo Furu, Luiz F. Onuchic, Sandro Rossetti, Peter C. Harris, Stefan Somlo, Lisa M. Guay‐Woodford, Gregory G. Germino, Markus Moser, Reinhard Büttner, Klaus Zerres

    I whakaputaina 2004
    Whiwhi kuputuhi katoa
    Revisão
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  18. 18
    Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

    Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum mā Matthis Synofzik, Anne S. Soehn, Janina Gburek‐Augustat, Julia Schicks, Kathrin N. Karle, Rebecca Schüle, Tobias B. Haack, M. Schöning, Saskia Biskup, Sabine Rudnik–Schöneborn, Jan Senderek, Karl‐Titus Hoffmann, Patrick MacLeod, Johannes Schwarz, Benjamin Bender, Stefan Krüger, Friedmar R. Kreuz, Peter Bauer, Lüdger Schöls

    I whakaputaina 2013
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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  19. 19
    Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

    Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures mā Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, Susanne Morales-Gonzalez, Gudrun Schottmann, Yu Tanaka, Sabine Rudnik–Schöneborn, Mickael Orgeur, Klaus Zerres, Stefanie Vogt, Anne van Riesen, Esther Gill, Franziska Seifert, Angelika Zwirner, Janbernd Kirschner, Hans H. Goebel, Christoph Hübner, Sigmar Stricker, David Meierhofer, Werner Stenzel, Markus Schuelke

    I whakaputaina 2016
    Whiwhi kuputuhi katoa
    Artigo
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  20. 20
    Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

    Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3 mā Jan Senderek, Sean M. Garvey, Michael J. B. Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte, Peter Hedera, Kristy Crooks, Carsten Bergmann, Sabine Rudnik–Schöneborn, Klaus Zerres, Hanns Lochmüller, Eric Seboun, Joachim Weis, J. Beckmann, Michael A. Hauser, Charles E. Jackson

    I whakaputaina 2009
    Whiwhi kuputuhi katoa Whiwhi kuputuhi katoa
    Artigo
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