نتائج البحث - Birgitte Bertelsen

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  1. 1
    Three New Loci for Determining X Chromosome Inactivation Patterns

    Three New Loci for Determining X Chromosome Inactivation Patterns حسب Birgitte Bertelsen, Zeynep Tümer, Kirstine Ravn

    منشور في 2011
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    Artigo
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  2. 2
    Whole genome sequencing in clinical practice

    Whole genome sequencing in clinical practice حسب Frederik Otzen Bagger, Line Borgwardt, Andreas Sand Jespersen, Anna Reimer Hansen, Birgitte Bertelsen, Miyako Kodama, Finn Cilius Nielsen

    منشور في 2024
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  3. 3
    A germline chromothripsis event stably segregating in 11 individuals through three generations

    A germline chromothripsis event stably segregating in 11 individuals through three generations حسب Birgitte Bertelsen, Lusine Nazaryan‐Petersen, Wei Sun, Mana M. Mehrjouy, Gangcai Xie, Wei Chen, Lena E. Hjermind, Peter E.M. Taschner, Zeynep Tümer

    منشور في 2015
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    Artigo
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  4. 4
    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome

    Intragenic deletions affecting two alternative transcripts of the IMMP2L gene in patients with Tourette syndrome حسب Birgitte Bertelsen, Linea Melchior, Lars R. Jensen, Camilla Groth, Birte Glenthøj, Renata Rizzo, Nanette Mol Debes, Liselotte Skov, Karen Brøndum‐Nielsen, Peristera Paschou, Asli Silahtaroglu, Zeynep Tümer

    منشور في 2014
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  5. 5
    High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer

    High frequency of pathogenic germline variants within homologous recombination repair in patients with advanced cancer حسب Birgitte Bertelsen, Ida Viller Tuxen, Christina W. Yde, Miglė Gabrielaitė, Mathias H. Torp, Savvas Kinalis, Olga Oestrup, Kristoffer Staal Rohrberg, Iben Spangaard, Eric Santoni‐Rugiu, Karin Wadt, Morten Mau‐Sørensen, Ulrik Lassen, Finn Cilius Nielsen

    منشور في 2019
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  6. 6
    Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort

    Association of AADAC Deletion and Gilles de la Tourette Syndrome in a Large European Cohort حسب Birgitte Bertelsen, Hreinn Stefánsson, Lars R. Jensen, Linea Melchior, Nanette Mol Debes, Camilla Groth, Liselotte Skov, Thomas Werge, Iordanis Karagiannidis, Zsanett Tárnok, Csaba Barta, Péter Nagy, Luca Farkas, Karen Brøndum‐Nielsen, Renata Rizzo, Mariangela Gulisano, Dan Rujescu, Lambertus A. Kiemeney, Sarah Tosato, Muhammad Sulaman Nawaz, Andrés Ingason, Unnur Unnsteinsdóttir, Stacy Steinberg, Pétur Lúðvígsson, Kāri Stefánsson, Andreas W. Kuß, Peristera Paschou, Daniëlle C. Cath, Pieter J. Hoekstra, Kirsten Müller‐Vahl, Manfred Stuhrmann, Asli Silahtaroglu, Rolph Pfundt, Zeynep Tümer

    منشور في 2015
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  7. 7
    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

    NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns حسب Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella, Danique R.M. Vlaskamp, Birgitte Bertelsen, Simone Mandelstam, Iris Lange, Jing Zhang, Candace T. Myers, Christina Fenger, Zaid Afawi, Edith P. Almanza Fuerte, Danielle M. Andrade, Yunus Balcik, Bruria Ben Zeev, Mark F. Bennett, Samuel F. Berkovic, Bertrand Isidor, Arjan Bouman, Eva H. Brilstra, Øyvind L. Busk, Anita Cairns, Roseline Caumes, Nicolas Chatron, Russell C. Dale, Christa de Geus, Patrick Edery, Deepak Gill, Jacob Bie Granild-Jensen, Lauren Gunderson, Boudewijn Gunning, Gali Heimer, Johan Robert Helle, Michael S. Hildebrand, Georgie Hollingsworth, Volodymyr Kharytonov, Eric W. Klee, Bobby P.C. Koeleman, David A. Koolen, Christian Korff, Sébastien Küry, Gaëtan Lesca, Dorit Lev, Richard J. Leventer, Mark T. Mackay, Erica L. Macke, Meriel McEntagart, Shekeeb S. Mohammad, Pauline Monin, Martino Montomoli, Éva Morava, Sébastien Moutton, Alison M. Muir, Elena Parrini, Peter Procopis, Emmanuelle Ranza, Laura Reed, Philipp S. Reif, Felix Rosenow, Massimiliano Rossi, Lynette G. Sadleir, Tara Sadoway, Helenius J. Schelhaas, Amy L. Schneider, Krati Shah, Ruth S. Shalev, Sanjay M. Sisodiya, Thomas Smol, Connie T. R. M. Stumpel, Kyra E. Stuurman, Joseph D. Symonds, Frédéric Tran Mau‐Them, Nienke E. Verbeek, Judith Verhoeven, Geoff Wallace, Keren Yosovich, Yuri A. Zárate, Ayelet Zerem, Sameer M. Zuberi, Renzo Guerrini, Heather C. Mefford, Chirag Patel, Yue-Hua Zhang, Rikke S. Møller, Ingrid E. Scheffer

    منشور في 2020
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  8. 8
    ENIGMA<i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired<i>CHEK2</i>Germline Missense Variants Associated with Increased Breast Cancer Risk

    ENIGMA<i>CHEK2</i>gether Project: A Comprehensive Study Identifies Functionally Impaired<i>CHEK2</i>Germline Missense Variants Associated with Increased Breast Cancer Risk حسب Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Yoichiro Kamatani, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas J. Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renata Michalovska, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux

    منشور في 2023
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  9. 9
    Data from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with Increased Breast Cancer Risk

    Data from ENIGMA &lt;i&gt;CHEK2&lt;/i&gt;gether Project: A Comprehensive Study Identifies Functionally Impaired &lt;i&gt;CHEK2&lt;/i&gt; Germline Missense Variants Associated with... حسب Lenka Stolařová, Petra Kleiblová, Petra Zemánková, Barbora Šťastná, Markéta Janatová, Jana Soukupová, Maria Isabel Achatz, Christine B. Ambrosone, Paraskevi Apostolou, Banu K. Arun, Paul L. Auer, Mollie E. Barnard, Birgitte Bertelsen, Koichi Matsuda, Yoichiro Kamatani, Takayuki Morisaki, Akiko Nagai, Kaori Muto, Yoshinori Murakami, Yoichi Furukawa, Yuji Yamanashi, Yusuke Nakamura, Taisei Mushiroda, Yukihide Momozawa, Toshihiro Tanaka, Yozo Ohnishi, Michiaki Kubo, Shinichi Higashiue, Shuzo Kobayashi, Shiro Minami, Hiroki Yamaguhci, Hajime Arai, Ken Yamaji, Yasushi Okazaki, Satoshi Asai, Yasuo Takahashi, Tomoaki Fujioka, Wataru Obara, Seijiro Mori, Shigeo Murayama, Satoshi Nagayama, Yoshio Miki, Akihide Masumoto, Akira Yamada, Yasuko Nishizawa, Masahiko Higashiyama, Hiromu Kutsumi, Yukihiro Koretsune, Takashi Yoshiyama, Marinus J. Blok, Nicholas J. Boddicker, Joan Brunet, Elizabeth S. Burnside, Mariarosaria Calvello, Ian Campbell, Sock Hoai Chan, Fei Chen, Jianbang Chiang, Anna Coppa, Laura Cortesi, Ana Crujeiras-González, Marianna Borecká, Marta Černá, Milena Hovhannisyan, Sandra Jelínková, Petr Nehasil, Lenka Foretová, Eva Macháčková, Vera Krutilkova, Spiros Tavandzis, Leona Cerna, Štěpán Chvojka, Monika Koudová, Alena Puchmajerová, Ondřej Havránek, Jan Novotný, Kamila Veselá, Michal Vočka, Lucie Hrušková, Renáta Michalovská, Denisa Schwetzova, Zdeňka Vlčková, Monika Černá, Markéta Hejnalová, Nikol Jedlickova, Ivan Šubrt, Tomas Zavoral, Marcela Kosařová, Gabriela Vacínová, Mária Janíková, Romana Kratochvílová, Václava Curtisová, Radek Vrtěl, Ondřej Scheinost, Petra Duskova, Viktor Stránecký, Kim De Leeneer, Robin De Putter, Allison DePersia, Lisa Devereux

    منشور في 2023
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  10. 10
    Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness

    Association of Genomic Domains in <i>BRCA1</i> and <i>BRCA2</i> with Prostate Cancer Risk and Aggressiveness حسب Vivek Patel, Evan L. Busch, Tara M. Friebel, Angel M. Cronin, Goska Leslie, Lesley McGuffog, Julian Adlard, Simona Agata, Bjarni A. Agnarsson, Munaza Ahmed, Kristiina Aittomäki, Elisa Alducci, Irene L. Andrulis, Aðalgeir Arason, Norbert Arnold, Grazia Artioli, Brita Arver, Bernd Auber, Jacopo Azzollini, Judith Balmañà, Rósa B. Barkardóttir, Daniel R. Barnes, Alicia Barroso, Daniel Barrowdale, Muriel Belotti, Javier Benı́tez, Birgitte Bertelsen, Marinus J. Blok, I. Bodrogi, Valérie Bonadona, Bernardo Bonanni, Davide Bondavalli, Susanne E. Boonen, Julika Borde, Åke Borg, Angela R. Bradbury, Angela Brady, Carole Brewer, Joan Brunet, Bruno Buecher, Saundra S. Buys, Santiago Cabezas-Camarero, Trinidad Caldés, Almuth Caliebe, Maria A. Caligo, Mariarosaria Calvello, Ian Campbell, Ileana Carnevali, Estela Carrasco, Tsun Leung Chan, Annie Chu, Wendy K. Chung, Kathleen Claes, GEMO Study Collaborators, EMBRACE Collaborators, Jackie Cook, Laura Cortesi, Fergus J. Couch, Mary B. Daly, Giuseppe Damante, Esther Darder, Rosemarie Davidson, Miguel de la Hoya, Lara Della Puppa, Joe Dennis, Orland Dı́ez, Yuan Chun Ding, Nina Ditsch, Susan M. Domchek, Alan Donaldson, Bernd Dworniczak, Douglas F. Easton, Diana Eccles, Rosalind A. Eeles, Hans Ehrencrona, Bent Ejlertsen, Christoph Engel, D. Gareth Evans, Laurence Faivre, Ulrike Faust, Lídia Feliubadaló, Lenka Foretová, Florentia Fostira, George Fountzilas, Debra Frost, Vanesa Garcı́a, Pilar Garré, Marion Gauthier‐Villars, Lajos Géczi, Andrea Gehrig, Anne‐Marie Gerdes, Paul Gesta, Giuseppe Giannini, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Mark H. Greene, Angelica M. Gutierrez‐Barrera, Eric Hahnen, Ute Hamann

    منشور في 2019
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