Arama Sonuçları - Peter Nürnberg

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  1. 1
    ALOHOMORA: a tool for linkage analysis using 10K SNP array data

    ALOHOMORA: a tool for linkage analysis using 10K SNP array data Yazar: Franz Rüschendorf, Peter Nürnberg

    Baskı/Yayın Bilgisi 2005
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  2. 2
    HaploPainter: a tool for drawing pedigrees with complex haplotypes

    HaploPainter: a tool for drawing pedigrees with complex haplotypes Yazar: Holger Thiele, Peter Nürnberg

    Baskı/Yayın Bilgisi 2004
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  3. 3
    Next Generation Sequencing of miRNAs – Strategies, Resources and Methods

    Next Generation Sequencing of miRNAs – Strategies, Resources and Methods Yazar: Susanne Motameny, Stefanie Wolters, Peter Nürnberg, Björn Schumacher

    Baskı/Yayın Bilgisi 2010
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  4. 4
    HomozygosityMapper--an interactive approach to homozygosity mapping

    HomozygosityMapper--an interactive approach to homozygosity mapping Yazar: Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt, Peter Nürnberg

    Baskı/Yayın Bilgisi 2009
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  5. 5
    The mutational spectrum of<i>ENPP1</i>as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)

    The mutational spectrum of<i>ENPP1</i>as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI) Yazar: Nico Ruf, Birgit Uhlenberg, Robert Terkeltaub, Peter Nürnberg, Frank Rutsch

    Baskı/Yayın Bilgisi 2004
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  6. 6
    Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA

    Complete characterization of the edited transcriptome of the mitochondrion of Physarum polycephalum using deep sequencing of RNA Yazar: Ralf Bundschuh, Janine Altmüller, C. Becker, Peter Nürnberg, Jonatha M. Gott

    Baskı/Yayın Bilgisi 2011
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  7. 7
    Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database

    Simple ClinVar: an interactive web server to explore and retrieve gene and disease variants aggregated in ClinVar database Yazar: Eduardo Pérez‐Palma, Marie Gramm, Peter Nürnberg, Patrick May, Dennis Lal

    Baskı/Yayın Bilgisi 2019
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  8. 8
    Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques

    Paternal relatedness and age proximity regulate social relationships among adult female rhesus macaques Yazar: Anja Widdig, Peter Nürnberg, Michael Krawczak, Wolf Jürgen Streich, Fred B. Bercovitch

    Baskı/Yayın Bilgisi 2001
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  9. 9
    A longitudinal analysis of reproductive skew in male rhesus macaques

    A longitudinal analysis of reproductive skew in male rhesus macaques Yazar: Anja Widdig, Fred B. Bercovitch, Wolf Jürgen Streich, Ulrike Sauermann, Peter Nürnberg, Michael Krawczak

    Baskı/Yayın Bilgisi 2004
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  10. 10
    Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras

    Effect of neurofibromatosis type I mutations on a novel pathway for adenylyl cyclase activation requiring neurofibromin and Ras Yazar: Frances Hannan, Ivan Shun Ho, James Jiayuan Tong, Yinghua Zhu, Peter Nürnberg, Yi Zhong

    Baskı/Yayın Bilgisi 2006
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  11. 11
    Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene<i>NPRL3</i>

    Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene<i>NPRL3</i> Yazar: Georg‐Christoph Korenke, Marlene Eggert, Hölger Thiele, Peter Nürnberg, Thomas Sander, Ortrud K. Steinlein

    Baskı/Yayın Bilgisi 2016
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  12. 12
    Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

    Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation Yazar: Maha S. Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz

    Baskı/Yayın Bilgisi 2017
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  13. 13
    Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function

    Rare Mutations of CACNB2 Found in Autism Spectrum Disease-Affected Families Alter Calcium Channel Function Yazar: Alexandra F. Breitenkamp, Jan Matthes, Robert D. Nass, Judith Sinzig, Gerd Lehmkuhl, Peter Nürnberg, Stefan Herzig

    Baskı/Yayın Bilgisi 2014
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  14. 14
    Demographic History of Oceania Inferred from Genome-wide Data

    Demographic History of Oceania Inferred from Genome-wide Data Yazar: Andreas Wollstein, Óscar Lao, Christian Becker, Silke Brauer, Ronald J. Trent, Peter Nürnberg, Mark Stoneking, Manfred Kayser

    Baskı/Yayın Bilgisi 2010
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  15. 15
    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 Yazar: Barbara Kloeckener‐Gruissem, Kristof Vandekerckhove, Gudrun Nürnberg, John Neidhardt, Christina Zeitz, Peter Nürnberg, Isaak Schipper, Wolfgang Berger

    Baskı/Yayın Bilgisi 2008
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  16. 16
    Novel Gene Locus for Autosomal Dominant Left Ventricular Noncompaction Maps to Chromosome 11p15

    Novel Gene Locus for Autosomal Dominant Left Ventricular Noncompaction Maps to Chromosome 11p15 Yazar: Sabine Klaassen, Susanne Probst, Brenda Gerull, Erwin Oechslin, Peter Nürnberg, Arnd Heuser, Rolf Jenni, Hans Christian Hennies, Ludwig Thierfelder

    Baskı/Yayın Bilgisi 2004
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  17. 17
    Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human

    Sequence-based bioinformatic prediction and QUASEP identify genomic imprinting of the KCNK9 potassium channel gene in mouse and human Yazar: Nico Ruf, Sylvia Bähring, Danuta Galetzka, Galyna Pliushch, Friedrich C. Luft, Peter Nürnberg, Thomas Haaf, Gavin Kelsey, Ulrich Zechner

    Baskı/Yayın Bilgisi 2007
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  18. 18
    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 Yazar: F Schmid, Esther Glaus, Daniel Barthelmes, Manfred Fliegauf, Harald Gaspar, Gudrun Nürnberg, Peter Nürnberg, Heymut Omran, Wolfgang Berger, John Neidhardt

    Baskı/Yayın Bilgisi 2011
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  19. 19
    Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement

    Loss of chondroitin 6-<i>O</i>-sulfotransferase-1 function results in severe human chondrodysplasia with progressive spinal involvement Yazar: Hölger Thiele, Masahiro Sakano, Hiroshi Kitagawa, Kazuyuki Sugahara, Anna Rajab, Wolfgang Höhne, Heide Ritter, Gundula Leschik, Peter Nürnberg, Stefan Mundlos

    Baskı/Yayın Bilgisi 2004
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  20. 20
    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 Yazar: Hölger Thiele, Marcel du Moulin, Katarzyna Barczyk, Christel George, Wolfram Schwindt, Gudrun Nürnberg, Michael Frosch, Gerhard Kurlemann, Johannes Roth, Peter Nürnberg, Frank Rutsch

    Baskı/Yayın Bilgisi 2010
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