Hasil Pencarian - Matthias Begemann

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  1. 1
    Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation

    Novel familial distal imprinting centre 1 (11p15.5) deletion provides further insights in imprinting regulation oleh Florian Kraft, Katharina Wesseler, Matthias Begemann, Ingo Kurth, Miriam Elbracht, Thomas Eggermann

    Diterbitkan 2019-02-01
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  2. 2
    Identification of transcription factor binding sites using ATAC-seq

    Identification of transcription factor binding sites using ATAC-seq oleh Zhijian Li, Marcel H. Schulz, Thomas Look, Matthias Begemann, Martin Zenke, Ivan G. Costa

    Diterbitkan 2019-02-01
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  3. 3
    Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco

    Variant of the catalytic cysteine of UFSP2 leads to spondyloepimetaphyseal dysplasia type Di Rocco oleh Larissa Mattern, Matthias Begemann, Heide Delbrück, Petra Holschbach, Silvia Schröder, Sabine M. Schacht, Ingo Kurth, Miriam Elbracht

    Diterbitkan 2023-06-01
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  4. 4
    DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation

    DDX41 germline variants causing donor cell leukemia indicate a need for further genetic workup in the context of hematopoietic stem cell transplantation oleh Benjamin Rolles, Robert Meyer, Matthias Begemann, Miriam Elbracht, Edgar Jost, Matthias Stelljes, Ingo Kurth, Tim H. Brümmendorf, Gerda Silling

    Diterbitkan 2023-05-01
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  5. 5
    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction

    Formation of upd(7)mat by trisomic rescue: SNP array typing provides new insights in chromosomal nondisjunction oleh Sandra Chantot-Bastaraud, Svea Stratmann, Frédéric Brioude, Matthias Begemann, Miriam Elbracht, Luitgard Graul-Neumann, Madeleine Harbison, Irène Netchine, Thomas Eggermann

    Diterbitkan 2017-07-01
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  6. 6
    Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach

    Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach oleh Larissa Bilo, Eguzkine Ochoa, Sunwoo Lee, Daniela Dey, Ingo Kurth, Florian Kraft, Fay Rodger, France Docquier, Ana Toribio, Leonardo Bottolo, Gerhard Binder, György Fekete, Miriam Elbracht, Eamonn R. Maher, Matthias Begemann, Thomas Eggermann

    Diterbitkan 2023-03-01
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  7. 7
    One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome

    One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver–Russell syndrome oleh Robert Meyer, Matthias Begemann, Christian Thomas Hübner, Daniela Dey, Alma Kuechler, Magdeldin Elgizouli, Ulrike Schara, Laima Ambrozaityte, Birute Burnyte, Carmen Schröder, Asmaa Kenawy, Peter Kroisel, Stephanie Demuth, Gyorgy Fekete, Thomas Opladen, Miriam Elbracht, Thomas Eggermann

    Diterbitkan 2021-01-01
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  8. 8
    Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies

    Impaired Overall Survival in Young Patients With Acute Myeloid Leukemia and Variants in Genes Predisposing for Myeloid Malignancies oleh Martin Kirschner, Benjamin Rolles, Martina Crysandt, Christoph Röllig, Friedrich Stölzel, Michael Kramer, Martin Bornhäuser, Hubert Serve, Uwe Platzbecker, Carsten Müller-Tidow, Kim Kricheldorf, Margherita Vieri, Matthias Begemann, Angela Maurer, Marcin W. Wlodarski, Sushree S. Sahoo, Tim H. Brümmendorf, Edgar Jost, Fabian Beier

    Diterbitkan 2022-11-01
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  9. 9
    DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift

    DNA methylation changes during long-term in vitro cell culture are caused by epigenetic drift oleh Julia Franzen, Theodoros Georgomanolis, Anton Selich, Chao-Chung Kuo, Reinhard Stöger, Lilija Brant, Melita Sara Mulabdić, Eduardo Fernandez-Rebollo, Clara Grezella, Alina Ostrowska, Matthias Begemann, Miloš Nikolić, Björn Rath, Anthony D. Ho, Michael Rothe, Axel Schambach, Argyris Papantonis, Wolfgang Wagner

    Diterbitkan 2021-05-01
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  10. 10
    Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria

    Identification of Adult Patients With Classical Dyskeratosis Congenita or Cryptic Telomere Biology Disorder by Telomere Length Screening Using Age-modified Criteria oleh Mareike Tometten, Martin Kirschner, Robert Meyer, Matthias Begemann, Insa Halfmeyer, Margherita Vieri, Kim Kricheldorf, Angela Maurer, Uwe Platzbecker, Markus Radsak, Philippe Schafhausen, Selim Corbacioglu, Britta Höchsmann, C. Matthias Wilk, Claas Hinze, Jörg Chromik, Michael Heuser, Michael Kreuter, Steffen Koschmieder, Jens Panse, Susanne Isfort, Ingo Kurth, Tim H. Brümmendorf, Fabian Beier

    Diterbitkan 2023-05-01
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  11. 11
    Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling

    Dissecting CD8+ T cell pathology of severe SARS-CoV-2 infection by single-cell immunoprofiling oleh Felix Schreibing, Felix Schreibing, Monica T. Hannani, Monica T. Hannani, Hyojin Kim, James S. Nagai, James S. Nagai, Fabio Ticconi, Fabio Ticconi, Eleanor Fewings, Tore Bleckwehl, Matthias Begemann, Natalia Torow, Christoph Kuppe, Christoph Kuppe, Ingo Kurth, Jennifer Kranz, Jennifer Kranz, Jennifer Kranz, Dario Frank, Teresa M. Anslinger, Teresa M. Anslinger, Patrick Ziegler, Thomas Kraus, Jürgen Enczmann, Vera Balz, Frank Windhofer, Paul Balfanz, Christian Kurts, Gernot Marx, Nikolaus Marx, Michael Dreher, Rebekka K. Schneider, Rebekka K. Schneider, Julio Saez-Rodriguez, Julio Saez-Rodriguez, Ivan Costa, Ivan Costa, Sikander Hayat, Rafael Kramann, Rafael Kramann, Rafael Kramann

    Diterbitkan 2022-12-01
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  12. 12
    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies

    Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies oleh Jil D. Stegmann, Jeshurun C. Kalanithy, Gabriel C. Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M. Lopes, Yee Mang Ho, Phillip Grote, Tobias T. Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim McBride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, TUDP consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J. Olson, Eric W. Klee, Brendan C. Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R. Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L. Cohen, Kacie Riley, Victoria Klee, Laurence E. Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Maureen S. Mulhern, Tristan T. Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C. Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S. Woolf, Jennifer E. Posey, James R. Lupski, Benjamin Odermatt, Alina C. Hilger

    Diterbitkan 2024-03-01
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