检索结果 - Gudrun Nürnberg

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  1. 1
    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria

    Mutation of Solute Carrier SLC16A12 Associates with a Syndrome Combining Juvenile Cataract with Microcornea and Renal Glucosuria 由 Barbara Kloeckener‐Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger

    出版 2008
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  2. 2
    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation

    U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation 由 F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt

    出版 2011
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  3. 3
    Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13

    Genomewide Scan in German Families Reveals Evidence for a Novel Psoriasis-Susceptibility Locus on Chromosome 19p13 由 Youngae Lee, Franz Rüschendorf, Christine Windemuth, Marcus Schmitt‐Egenolf, Antje Stadelmann, Gudrun Nürnberg, Markward Ständer, Thomas F. Wienker, André Reis, Heiko Traupe

    出版 2000
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  4. 4
    Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression

    Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression 由 Hölger Thiele, Marcel du Moulin, Katarzyna Barczyk, Christel George, Wolfram Schwindt, Gudrun Nürnberg, Michael Frosch, Gerhard Kurlemann, Johannes Roth, Peter Nürnberg, Frank Rutsch

    出版 2010
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  5. 5
    A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

    A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula 由 Arif O. Khan, Elvir Bećirović, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz

    出版 2017
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  6. 6
    Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

    Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 由 Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun Nürnberg, Susanne Jatzke, Ernst Franzek, André Reis, Klaus‐Peter Lesch, Thomas F. Wienker, H. Beckmann

    出版 2000
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  7. 7
    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 由 Tobias Eisenberger, Rima Slim, Ahmad M. Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno J. Bolz

    出版 2012
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  8. 8
    Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15

    Splitting Schizophrenia: Periodic Catatonia–Susceptibility Locus on Chromosome 15q15 由 Gerald Stöber, Kathrin Saar, Franz Rüschendorf, Jobst Meyer, Gudrun Nürnberg, Susanne Jatzke, Ernst Franzek, André Reis, Klaus‐Peter Lesch, Thomas F. Wienker, H. Beckmann

    出版 2000
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  9. 9
    Truncating mutation of the<i>DFNB59</i>gene causes cochlear hearing impairment and central vestibular dysfunction

    Truncating mutation of the<i>DFNB59</i>gene causes cochlear hearing impairment and central vestibular dysfunction 由 Inga Ebermann, Martin Walger, Hendrik P. N. Scholl, Peter Charbel Issa, Christoph Lüke, Gudrun Nürnberg, Ruth Lang‐Roth, Christian Becker, Peter Nürnberg, Hanno J. Bolz

    出版 2007
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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 由 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

    出版 1999
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  11. 11
    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome

    Autosomal recessive POLR1D mutation with decrease of TCOF1 mRNA is responsible for Treacher Collins syndrome 由 Élise Schaefer, Corinne Collet, David Geneviève, Marie Vincent, Dietmar Lohmann, Elodie Sanchez, Chantal Bolender, Marie‐Madeleine Eliot, Gudrun Nürnberg, Maria-Rita Passos-Bueno, Dagmar Wieczorek, Lionel Van Maldergem, Bérénice Doray

    出版 2014
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  12. 12
    Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

    Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease 由 Vinzenz Oji, Katja‐Martina Eckl, Karin Aufenvenne, Marc Nätebus, T. Tarinski, Katharina Ackermann, Natalia Seller, Dieter Metze, Gudrun Nürnberg, Regina Fölster‐Holst, Monika Schäfer‐Korting, Ingrid Haußer, Heiko Traupe, Hans Christian Hennies

    出版 2010
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  13. 13
    A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function

    A Truncating Mutation of CEP135 Causes Primary Microcephaly and Disturbed Centrosomal Function 由 Muhammad Sajid Hussain, Shahid Mahmood Baig, Sascha Neumann, Gudrun Nürnberg, Muhammad Farooq, Ilyas Ahmad, Thomas Alef, Hans Christian Hennies, Martin Technau, Janine Altmüller, Peter Frommolt, Holger Thiele, Angelika A. Noegel, Peter Nürnberg

    出版 2012
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  14. 14
    Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia

    Mutations in the Gene Encoding the Wnt-Signaling Component R-Spondin 4 (RSPO4) Cause Autosomal Recessive Anonychia 由 Carsten Bergmann, Jan Senderek, Dirk Anhuf, Christian T. Thiel, Arif B. Ekici, Pamela Poblete‐Gutiérrez, Maurice A. M. Van Steensel, Dominik Seelow, Gudrun Nürnberg, Hans H. Schild, Peter Nürnberg, André Reis, Jorge Frank, Klaus Zerres

    出版 2006
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  15. 15
    Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

    Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency 由 Lou Metherell, Danielle Naville, G Halaby, Martine Bégeot, Angela Huebner, Gudrun Nürnberg, Peter Nürnberg, Jane Green, Jeremy Tomlinson, Nils Krone, Lin Lin, Michaël Racine, Daniel M. Berney, John C. Achermann, Wiebke Arlt, Adrian Clark

    出版 2009
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  16. 16
    Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome

    Mutations in <i> <scp>CDK</scp> 5 <scp>RAP</scp> 2 </i> cause Seckel syndrome 由 Gökhan Yigit, Karen E. Brown, Hülya Kayserili, Esther Pohl, Almuth Caliebe, Diana Zahnleiter, Elisabeth Rosser, Nina Bögershausen, Zehra Oya Uyguner, Umut Altunoğlu, Gudrun Nürnberg, Peter Nürnberg, Anita Rauch, Yun Li, Christian T. Thiel, Bernd Wollnik

    出版 2015
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  17. 17
    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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  18. 18
    OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

    OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) 由 Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, M. Ptok, Morag A. Lewis, Hölger Thiele, Susanne Morlot, Markus Heß, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P. Steel, Marlies Knipper, Hanno J. Bolz

    出版 2015
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  19. 19
    PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

    PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly 由 Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel‐Wolfrum, Mostafa I. Mostafa, Hölger Thiele, Uwe Wolfrum, Eveline Baumgart‐Vogt, Hanno J. Bolz

    出版 2015
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  20. 20
    Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss

    Mutations in TPRN Cause a Progressive Form of Autosomal-Recessive Nonsyndromic Hearing Loss 由 Yun Li, Esther Pohl, Redouane Boulouiz, Margit Schraders, Gudrun Nürnberg, Majida Charif, R.J.C. Admiraal, Simon von Ameln, Ingelore Baessmann, Mostafa Kandil, Joris A. Veltman, Peter Nürnberg, Christian Kubisch, Abdelhamid Barakat, Hannie Kremer, Bernd Wollnik

    出版 2010
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