Hasil Pencarian - Niels Tommerup

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  1. 1
    Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization

    Metaphase FISH on a Chip: Miniaturized Microfluidic Device for Fluorescence in situ Hybridization oleh Niels Tommerup, Winnie E. Svendsen, Zeynep Tumer, Maria Dimaki, Pranjul Shah, Indumathi Vedarethinam

    Diterbitkan 2010-11-01
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  2. 2
    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement

    Cryptic breakpoint identified by whole-genome mate-pair sequencing in a rare paternally inherited complex chromosomal rearrangement oleh Constantia Aristidou, Athina Theodosiou, Andria Ketoni, Mads Bak, Mana M. Mehrjouy, Niels Tommerup, Carolina Sismani

    Diterbitkan 2018-06-01
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  3. 3
    REST-mediated recruitment of polycomb repressor complexes in mammalian cells.

    REST-mediated recruitment of polycomb repressor complexes in mammalian cells. oleh Nikolaj Dietrich, Mads Lerdrup, Eskild Landt, Shuchi Agrawal-Singh, Mads Bak, Niels Tommerup, Juri Rappsilber, Erik Södersten, Klaus Hansen

    Diterbitkan 2012-01-01
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  4. 4
    Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing.

    Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing. oleh Constantia Aristidou, Costas Koufaris, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Farkhondeh Behjati, George Tanteles, Violetta Christophidou-Anastasiadou, Niels Tommerup, Carolina Sismani

    Diterbitkan 2017-01-01
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  5. 5
    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family

    A splice-site variant in the lncRNA gene RP1-140A9.1 cosegregates in the large Volkmann cataract family oleh Hans Eiberg, Annemette F. Mikkelsen, Mads Bak, Niels Tommerup, Allan M. Lund, Anne Wenzel, Radhakrishnan Sabarinathan, Jan Gorodkin, Claus H. Bang-Berthelsen, Lars Hansen

    Diterbitkan 2019-01-01
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  6. 6
    Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption?

    Mesomelia-synostoses syndrome: contiguous deletion syndrome, SULF1 haploinsufficiency or enhancer adoption? oleh Ingrid Bendas Feres Lima, Lúcia de Fátima Marques de Moraes, Carlos Roberto da Fonseca, Juan Clinton Llerena Junior, Mana Mehrjouy, Niels Tommerup, Elenice Ferreira Bastos

    Diterbitkan 2024-07-01
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  7. 7
    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases.

    Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases. oleh Constantia Aristidou, Athina Theodosiou, Mads Bak, Mana M Mehrjouy, Efthymia Constantinou, Angelos Alexandrou, Ioannis Papaevripidou, Violetta Christophidou-Anastasiadou, Nicos Skordis, Sophia Kitsiou-Tzeli, Niels Tommerup, Carolina Sismani

    Diterbitkan 2018-01-01
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  8. 8
    Genetic association studies in lumbar disc degeneration: a systematic review.

    Genetic association studies in lumbar disc degeneration: a systematic review. oleh Pasi J Eskola, Susanna Lemmelä, Per Kjaer, Svetlana Solovieva, Minna Männikkö, Niels Tommerup, Allan Lind-Thomsen, Kirsti Husgafvel-Pursiainen, Kenneth M C Cheung, Danny Chan, Dino Samartzis, Jaro Karppinen

    Diterbitkan 2012-01-01
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  9. 9
    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients

    Identification and analysis of deletion breakpoints in four Mohr-Tranebjærg syndrome (MTS) patients oleh Nanna Dahl Rendtorff, Helena Gásdal Karstensen, Marianne Lodahl, John Tolmie, Catherine McWilliam, Mads Bak, Niels Tommerup, Lusine Nazaryan-Petersen, Henricus Kunst, Melanie Wong, Shelagh Joss, Valerio Carelli, Lisbeth Tranebjærg

    Diterbitkan 2022-09-01
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  10. 10
    Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients

    Acute and persistent symptoms in non-hospitalized PCR-confirmed COVID-19 patients oleh Sofie Bliddal, Karina Banasik, Ole Birger Pedersen, Janna Nissen, Lisa Cantwell, Michael Schwinn, Morten Tulstrup, David Westergaard, Henrik Ullum, Søren Brunak, Niels Tommerup, Bjarke Feenstra, Frank Geller, Sisse Rye Ostrowski, Kirsten Grønbæk, Claus Henrik Nielsen, Susanne Dam Nielsen, Ulla Feldt-Rasmussen

    Diterbitkan 2021-06-01
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  11. 11
    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.

    Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization. oleh Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic, Outi Mäkitie, Ann Nordgren, Francesco Vezzi, Valtteri Wirta, Max Käller, Tina Duelund Hjortshøj, Cathrine Jespersgaard, Rayan Houssari, Laura Pignata, Mads Bak, Niels Tommerup, Elisabeth Syk Lundberg, Zeynep Tümer, Anna Lindstrand

    Diterbitkan 2018-11-01
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  12. 12
    Dissecting spatio‐temporal protein networks driving human heart development and related disorders

    Dissecting spatio‐temporal protein networks driving human heart development and related disorders oleh Kasper Lage, Kjeld Møllgård, Steven Greenway, Hiroko Wakimoto, Joshua M Gorham, Christopher T Workman, Eske Bendsen, Niclas T Hansen, Olga Rigina, Francisco S Roque, Cornelia Wiese, Vincent M Christoffels, Amy E Roberts, Leslie B Smoot, William T Pu, Patricia K Donahoe, Niels Tommerup, Søren Brunak, Christine E Seidman, Jonathan G Seidman, Lars A Larsen

    Diterbitkan 2010-01-01
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  13. 13
    A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment.

    A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment. oleh Mette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, Thomas J Corydon, Ditte Demontis, Anna Starnawska, Anne Hedemand, Annalisa Buniello, Francesco Niola, Michael T Overgaard, Suzanne M Leal, Wasim Ahmad, Friedrik P Wikman, Kirsten B Petersen, Dorthe G Crüger, Jaap Oostrik, Hannie Kremer, Niels Tommerup, Morten Frödin, Karen P Steel, Lisbeth Tranebjærg, Anders D Børglum

    Diterbitkan 2015-07-01
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  14. 14
    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis

    RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis oleh Muhammad Farooq, Louise Lindbæk, Nicolai Krogh, Canan Doganli, Cecilie Keller, Maren Mönnich, André Brás Gonçalves, Srinivasan Sakthivel, Yuan Mang, Ambrin Fatima, Vivi Søgaard Andersen, Muhammad S. Hussain, Hans Eiberg, Lars Hansen, Klaus Wilbrandt Kjaer, Jay Gopalakrishnan, Lotte Bang Pedersen, Kjeld Møllgård, Henrik Nielsen, Shahid. M. Baig, Niels Tommerup, Søren Tvorup Christensen, Lars Allan Larsen

    Diterbitkan 2020-11-01
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  15. 15
    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.

    Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes. oleh Anna Byrjalsen, Thomas V O Hansen, Ulrik K Stoltze, Mana M Mehrjouy, Nanna Moeller Barnkob, Lisa L Hjalgrim, René Mathiasen, Charlotte K Lautrup, Pernille A Gregersen, Henrik Hasle, Peder S Wehner, Ruta Tuckuviene, Peter Wad Sackett, Adrian O Laspiur, Maria Rossing, Rasmus L Marvig, Niels Tommerup, Tina Elisabeth Olsen, David Scheie, Ramneek Gupta, Anne-Marie Gerdes, Kjeld Schmiegelow, Karin Wadt

    Diterbitkan 2020-12-01
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  16. 16
    Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes

    Integration of Hi-C with short and long-read genome sequencing reveals the structure of germline rearranged genomes oleh Robert Schöpflin, Uirá Souto Melo, Hossein Moeinzadeh, David Heller, Verena Laupert, Jakob Hertzberg, Manuel Holtgrewe, Nico Alavi, Marius-Konstantin Klever, Julius Jungnitsch, Emel Comak, Seval Türkmen, Denise Horn, Yannis Duffourd, Laurence Faivre, Patrick Callier, Damien Sanlaville, Orsetta Zuffardi, Romano Tenconi, Nehir Edibe Kurtas, Sabrina Giglio, Bettina Prager, Anna Latos-Bielenska, Ida Vogel, Merete Bugge, Niels Tommerup, Malte Spielmann, Antonio Vitobello, Vera M. Kalscheuer, Martin Vingron, Stefan Mundlos

    Diterbitkan 2022-10-01
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  17. 17
    Clonal hematopoiesis and COVID‐19 hospitalization in Danish adults

    Clonal hematopoiesis and COVID‐19 hospitalization in Danish adults oleh Celia Burgos Sequeros, Morten Tulstrup, Sofie Bliddal, Karina Meden Sørensen, Ioanna Nissen, Omid Rezahosseini, Patrick Terrence Brooks, Bjarke Feenstra, Anne Ortved Gang, Frank Geller, Annemette Hald, Zitta Barrella Harboe, Marie Helleberg, Jakob S. Jespersen, Anne‐Mette Lebech, Birgitte Lindegaard, Trine H. Mogensen, Maria Elizabeth Engel Møller, Claus Henrik Nielsen, Carsten Utoft Niemann, Daria Podlekareva, Adin Sejdic, Erik Sørensen, Rebecca Svanberg Teglgaard, Niels Tommerup, Nina Weis, Søren Brunak, Ole Birger Vestager Pedersen, Karina Banasik, Ulla Feldt‐Rasmussen, Susanne Dam Nielsen, Sisse Rye Ostrowski, Kirsten Grønbæk

    Diterbitkan 2024-03-01
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