Rezultati pretrage - Malte Spielmann

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  1. 1
    Looking beyond the genes: the role of non-coding variants in human disease

    Looking beyond the genes: the role of non-coding variants in human disease od Malte Spielmann, Stefan Mundlos

    Izdano 2016
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  2. 2
    Single-Cell Sequencing in Neurodegenerative Disorders

    Single-Cell Sequencing in Neurodegenerative Disorders od Jelena Pozojevic, Malte Spielmann

    Izdano 2023
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  3. 3
    Breaking TADs: How Alterations of Chromatin Domains Result in Disease

    Breaking TADs: How Alterations of Chromatin Domains Result in Disease od Darío G. Lupiáñez, Malte Spielmann, Stefan Mundlos

    Izdano 2016
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  4. 4
    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions

    Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein‐Coding Regions od Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman, Christian Gilissen

    Izdano 2015
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  5. 5
    Combining callers improves the detection of copy number variants from whole-genome sequencing

    Combining callers improves the detection of copy number variants from whole-genome sequencing od Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin A. Mensah, Malte Spielmann, Peter Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos

    Izdano 2021
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  6. 6
    Enhanced susceptibility to infections in a diabetic wound healing model

    Enhanced susceptibility to infections in a diabetic wound healing model od Tobias Hirsch, Malte Spielmann, Baraa Zuhaili, Till Koehler, Magdalena Fossum, Hans‐Ulrich Steinau, Feng Yao, Lars Steinstraesser, Andrew B. Onderdonk, Elof Eriksson

    Izdano 2008
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  7. 7
    Formin-mediated nuclear actin at androgen receptors promotes transcription

    Formin-mediated nuclear actin at androgen receptors promotes transcription od Julian Knerr, Ralf Werner, Carsten Schwan, Hong Wang, Peter Gebhardt, Helga Grötsch, Almuth Caliebe, Malte Spielmann, Paul‐Martin Holterhus, Robert Grosse, Nadine Hornig

    Izdano 2023
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  8. 8
    Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families

    Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families od Naeimeh Tayebi, Aleksander Jamsheer, Ricarda Flöttmann, Anna Sowińska‐Seidler, Sandra C. Doelken, Barbara Oehl‐Jaschkowitz, Wiebke Hülsemann, R. Habenicht, Eva Klopocki, Stefan Mundlos, Malte Spielmann

    Izdano 2014
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  9. 9
    Precision medicine in rare diseases: What is next?

    Precision medicine in rare diseases: What is next? od Bianca Tesi, Cathérine Boileau, Kym M. Boycott, Guillaume Canaud, Mark J. Caulfield, Daniela Choukair, Sue Hill, Malte Spielmann, Anna Wedell, Valtteri Wirta, Ann Nordgren, Anna Lindstrand

    Izdano 2023
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  10. 10
    The single-cell transcriptional landscape of mammalian organogenesis

    The single-cell transcriptional landscape of mammalian organogenesis od Junyue Cao, Malte Spielmann, Xiaojie Qiu, Xingfan Huang, Daniel M. Ibrahim, Andrew J. Hill, Fan Zhang, Stefan Mundlos, Lena Christiansen, Frank J. Steemers, Cole Trapnell, Jay Shendure

    Izdano 2019
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  11. 11
    VarFish: comprehensive DNA variant analysis for diagnostics and research

    VarFish: comprehensive DNA variant analysis for diagnostics and research od Manuel Holtgrewe, Oliver Stolpe, Mikko Nieminen, Stefan Mundlos, Alexej Knaus, Uwe Kornak, Dominik Seelow, Lara Segebrecht, Malte Spielmann, Björn Fischer‐Zirnsak, Felix Boschann, Ute I. Scholl, Nadja Ehmke, Dieter Beule

    Izdano 2020
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  12. 12
    Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in <scp>LRRK2</scp> p.<scp>Gly2019Ser</scp> Parkinsonism

    Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in <scp>LRRK2</scp> p.<scp>Gly2019Ser</scp> Parkinsonism od Theresa Lüth, Carolin Gabbert, Sebastian Koch, Inke R. König, Amke Caliebe, Björn‐Hergen Laabs, F. Hentati, Samia Ben Sassi, Rim Amouri, Malte Spielmann, Christine Klein, Anne Grünewald, Matthew J. Farrer, Joanne Trinh

    Izdano 2023
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  13. 13
    Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice

    Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice od Katerina Kraft, Sinje Geuer, Anja J. Will, Wing Lee Chan, Christina Paliou, Marina Borschiwer, Izabela Harabula, Lars Wittler, Martin Franke, Daniel M. Ibrahim, Bjørt K. Kragesteen, Malte Spielmann, Stefan Mundlos, Darío G. Lupiáñez, Guillaume Andrey

    Izdano 2015
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  14. 14
    Systematic reconstruction of cellular trajectories across mouse embryogenesis

    Systematic reconstruction of cellular trajectories across mouse embryogenesis od Chengxiang Qiu, Junyue Cao, Beth Martin, Tony Li, Ian Welsh, Sanjay Srivatsan, Xingfan Huang, Diego Calderon, William Stafford Noble, Christine M. Distèche, Stephen A. Murray, Malte Spielmann, Cecilia B. Moens, Cole Trapnell, Jay Shendure

    Izdano 2022
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  15. 15
    Embryo-scale, single-cell spatial transcriptomics

    Embryo-scale, single-cell spatial transcriptomics od Sanjay Srivatsan, Mary C. Regier, Eliza Barkan, Jennifer M. Franks, Jonathan S. Packer, Parker Grosjean, Madeleine Duran, Sarah H. Saxton, Jon J. Ladd, Malte Spielmann, Carlos Lois, Paul D. Lampe, Jay Shendure, Kelly R. Stevens, Cole Trapnell

    Izdano 2021
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  16. 16
    Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3

    Combinatorial effects on gene expression at the Lbx1/Fgf8 locus resolve split-hand/foot malformation type 3 od Giulia Cova, Juliane Glaser, Robert Schöpflin, Cesar A. Prada‐Medina, Salaheddine Ali, Martin Franke, Rita Falcone, Miriam Federer, Emanuela Ponzi, Romina Ficarella, Francesca Novara, Lars Wittler, Bernd Timmermann, Mattia Gentile, Orsetta Zuffardi, Malte Spielmann, Stefan Mundlos

    Izdano 2023
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  17. 17
    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) od Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, L Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco

    Izdano 2015
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  18. 18
    Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome

    Microduplications encompassing the Sonic hedgehog limb enhancer <scp>ZRS</scp> are associated with Haas‐type polysyndactyly and Laurin‐Sandrow syndrome od Silke B. Lohan, Malte Spielmann, Sandra C. Doelken, Ricarda Flöttmann, Fatima A. Muhammad, Shahid Mahmood Baig, Muhammad Wajid, Wiebke Hülsemann, R. Habenicht, Klaus Kjaer, Siddaramappa J. Patil, Katta M. Girisha, Hugo Hernán Abarca-Barriga, Stefan Mundlos, Eva Klopocki

    Izdano 2014
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  19. 19
    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

    A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease od Damian Smedley, Max Schubach, Julius O.B. Jacobsen, Sebastian Köhler, Tomasz Żemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L. Washington, Julie A. McMurry, Melissa Haendel, Chris Mungall, Suzanna Lewis, Tudor Groza, Giorgio Valentini, Peter N. Robinson

    Izdano 2016
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  20. 20
    Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus

    Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus od Malte Spielmann, Francesco Brancati, Peter Krawitz, Peter N. Robinson, Daniel M. Ibrahim, Martin Franke, Jochen Hecht, Silke B. Lohan, Katarina Dathe, Anna Maria Nardone, Paola Ferrari, Antonio Landi, Lars Wittler, Bernd Timmermann, Danny Chan, U Mennen, Eva Klopocki, Stefan Mundlos

    Izdano 2012
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