Zeynep Tümer

Zeynep Tümer

Klinisk Professor


  1. 2019
  2. Udgivet

    Complex Compound Inheritance of Lethal Lung Developmental Disorders due to Disruption of the TBX-FGF Pathway. / Karolak, Justyna A; Vincent, Marie; Deutsch, Gail; Gambin, Tomasz; Cogné, Benjamin; Pichon, Olivier; Vetrini, Francesco; Mefford, Heather C; Dines, Jennifer N; Golden-Grant, Katie; Dipple, Katrina; Freed, Amanda S; Leppig, Kathleen A; Dishop, Megan; Mowat, David; Bennetts, Bruce; Gifford, Andrew J; Weber, Martin A; Lee, Anna F; Boerkoel, Cornelius F; Bartell, Tina M; Ward-Melver, Catherine; Besnard, Thomas; Petit, Florence; Bache, Iben; Tümer, Zeynep; Denis-Musquer, Marie; Joubert, Madeleine; Martinovic, Jelena; Bénéteau, Claire; Molin, Arnaud; Carles, Dominique; André, Gwenaelle; Bieth, Eric; Chassaing, Nicolas; Devisme, Louise; Chalabreysse, Lara; Pasquier, Laurent; Secq, Véronique; Don, Massimiliano; Orsaria, Maria; Missirian, Chantal; Mortreux, Jérémie; Sanlaville, Damien; Pons, Linda; Küry, Sébastien; Bézieau, Stéphane; Liet, Jean-Michel; Joram, Nicolas; Bihouée, Tiphaine; Scott, Daryl A; Brown, Chester W; Scaglia, Fernando; Tsai, Anne Chun-Hui; Grange, Dorothy K; Phillips, John A; Pfotenhauer, Jean P; Jhangiani, Shalini N; Gonzaga-Jauregui, Claudia G; Chung, Wendy K; Schauer, Galen M; Lipson, Mark H; Mercer, Catherine L; van Haeringen, Arie; Liu, Qian; Popek, Edwina; Coban Akdemir, Zeynep H; Lupski, James R; Szafranski, Przemyslaw; Isidor, Bertrand; Le Caignec, Cedric; Stankiewicz, Paweł.

    I: American Journal of Human Genetics, Bind 104, Nr. 2, 07.02.2019, s. 213-228.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  3. Udgivet

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature. / Schönewolf-Greulich, Bitten; Bisgaard, Anne-Marie; Møller, Rikke S; Dunø, Morten; Brøndum-Nielsen, Karen; Kaur, Simran; Van Bergen, Nicole J; Lunke, Sebastian; Eggers, Stefanie; Jespersgaard, Cathrine; Christodoulou, John; Tümer, Zeynep.

    I: Clinical Genetics, Bind 95, Nr. 2, 2019, s. 221-230.

    Publikation: Bidrag til tidsskriftReviewForskningfagfællebedømt

  4. Udgivet

    Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements. / Schönewolf-Greulich, Bitten; Bisgaard, Anne Marie; Dunø, Morten; Jespersgaard, Cathrine; Rokkjær, Mette; Hansen, Lars K.; Tsoutsou, Eirini; Sofokleous, Christalena; Topcu, Meral; Kaur, Simran; Van Bergen, Nicole J.; Brøndum-Nielsen, Karen; Larsen, Martin J.; Sørensen, Kristina P.; Christodoulou, John; Fagerberg, Christina R.; Tümer, Zeynep.

    I: Clinical Genetics, Bind 95, Nr. 3, 2019, s. 403-408.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  5. 2018
  6. Udgivet

    Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains. / Monk, David; Morales, Joannella; den Dunnen, Johan T; Russo, Silvia; Court, Franck; Prawitt, Dirk; Eggermann, Thomas; Beygo, Jasmin; Buiting, Karin; Tümer, Zeynep.

    I: Epigenetics, 01.2018.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  7. Udgivet

    Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome : an international consensus statement. / Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R.

    I: Nature Reviews Endocrinology, Bind 14, 2018, s. 229-249.

    Publikation: Bidrag til tidsskriftReviewForskningfagfællebedømt

  8. Udgivet

    Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications. / Wolfe, Kate; McQuillin, Andrew; Alesi, Viola; Boudry Labis, Elise; Cutajar, Peter; Dallapiccola, Bruno; Dentici, Maria Lisa; Dieux-Coeslier, Anne; Duban-Bedu, Benedicte; Duelund Hjortshøj, Tina; Goel, Himanshu; Loddo, Sara; Morrogh, Deborah; Mosca-Boidron, Anne-Laure; Novelli, Antonio; Olivier-Faivre, Laurence; Parker, Jennifer; Parker, Michael J; Patch, Christine; Pelling, Anna L; Smol, Thomas; Tümer, Zeynep; Vanakker, Olivier; van Haeringen, Arie; Vanlerberghe, Clémence; Strydom, Andre; Skuse, David; Bass, Nick.

    I: American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, Bind 177, Nr. 4, 2018, s. 397-405.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  9. Udgivet

    Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement. / Kline, Antonie D; Moss, Joanna F; Selicorni, Angelo; Bisgaard, Anne-Marie; Deardorff, Matthew A; Gillett, Peter M; Ishman, Stacey L; Kerr, Lynne M; Levin, Alex V; Mulder, Paul A; Ramos, Feliciano J; Wierzba, Jolanta; Ajmone, Paola Francesca; Axtell, David; Blagowidow, Natalie; Cereda, Anna; Costantino, Antonella; Cormier-Daire, Valerie; FitzPatrick, David; Grados, Marco; Groves, Laura; Guthrie, Whitney; Huisman, Sylvia; Kaiser, Frank J; Koekkoek, Gerritjan; Levis, Mary; Mariani, Milena; McCleery, Joseph P; Menke, Leonie A; Metrena, Amy; O'Connor, Julia; Oliver, Chris; Pie, Juan; Piening, Sigrid; Potter, Carol J; Quaglio, Ana L; Redeker, Egbert; Richman, David; Rigamonti, Claudia; Shi, Angell; Tümer, Zeynep; Van Balkom, Ingrid D C; Hennekam, Raoul C.

    I: Nature Reviews. Genetics, Bind 19, 2018, s. 649-666.

    Publikation: Bidrag til tidsskriftReviewForskningfagfællebedømt

  10. Udgivet

    Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C. / Hey, Caroline Amalie Brunbjerg; Saltõkowa, Katarina Beata; Larsen, Lasse Jonsgaard; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Hjortshøj, Tina Duelund; Møller, Lisbeth Birk.

    I: Stem Cell Research, Bind 31, 2018, s. 235-239.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  11. Udgivet

    Generation of induced pluripotent stem cells, KCi002-A derived from a patient with Bardet-Biedl syndrome homozygous for the BBS10 variant c.271insT. / Hey, Caroline Amalie Brunbjerg; Saltõkowa, Katarina Beata; Larsen, Lasse Jonsgaard; Tümer, Zeynep; Brøndum-Nielsen, Karen; Grønskov, Karen; Hjortshøj, Tina Duelund; Møller, Lisbeth Birk.

    I: Stem Cell Research, Bind 33, 2018, s. 46-50.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

  12. Udgivet

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

    I: PLOS Genetics, Bind 14, Nr. 11, e1007780, 2018.

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningfagfællebedømt

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