检索结果 - Malte Spielmann

Refine Results
  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 由 Malte Spielmann, Stefan Mundlos

    出版 2016
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  2. 2
    Single-Cell Sequencing in Neurodegenerative Disorders

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

    出版 2023
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  3. 3
    Breaking TADs: How Alterations of Chromatin Domains Result in Disease

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

    出版 2016
    获取全文
    Revisão
    加到收藏夹
    Saved in:
  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 由 Stefan H. Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A. Veltman, Christian Gilissen

    出版 2015
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 Marie Coutelier, Manuel Holtgrewe, Marten Jäger, Ricarda Flöttman, Martin A. Mensah, Malte Spielmann, Peter Krawitz, Denise Horn, Dieter Beule, Stefan Mundlos

    出版 2021
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  6. 6
    Enhanced susceptibility to infections in a diabetic wound healing model

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

    出版 2008
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  7. 7
    Formin-mediated nuclear actin at androgen receptors promotes transcription

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

    出版 2023
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2014
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  9. 9
    Precision medicine in rare diseases: What is next?

    Precision medicine in rare diseases: What is next? 由 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

    出版 2023
    获取全文 获取全文
    Revisão
    加到收藏夹
    Saved in:
  10. 10
    The single-cell transcriptional landscape of mammalian organogenesis

    The single-cell transcriptional landscape of mammalian organogenesis 由 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

    出版 2019
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  11. 11
    VarFish: comprehensive DNA variant analysis for diagnostics and research

    VarFish: comprehensive DNA variant analysis for diagnostics and research 由 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

    出版 2020
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2023
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  14. 14
    Systematic reconstruction of cellular trajectories across mouse embryogenesis

    Systematic reconstruction of cellular trajectories across mouse embryogenesis 由 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

    出版 2022
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  15. 15
    Embryo-scale, single-cell spatial transcriptomics

    Embryo-scale, single-cell spatial transcriptomics 由 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

    出版 2021
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2023
    获取全文 获取全文
    Artigo
    加到收藏夹
    Saved in:
  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) 由 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

    出版 2015
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2014
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2016
    获取全文
    Artigo
    加到收藏夹
    Saved in:
  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 由 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

    出版 2012
    获取全文
    Artigo
    加到收藏夹
    Saved in:

检索工具: