检索结果 - Ketil Heimdal

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  1. 1
    Obstructive sleep apnea in Treacher Collins syndrome

    Obstructive sleep apnea in Treacher Collins syndrome 由 Harriet Akre, Britt Øverland, Pamela Åsten, Nina Skogedal, Ketil Heimdal

    出版 2011
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  2. 2
    Inherited retinal disease in Norway – a characterization of current clinical and genetic knowledge

    Inherited retinal disease in Norway – a characterization of current clinical and genetic knowledge 由 Josephine Prener Holtan, Kaja Kristine Selmer, Ketil Heimdal, Ragnheiður Bragadóttir

    出版 2019
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  3. 3
    Familial testicular cancer in Norway and southern Sweden

    Familial testicular cancer in Norway and southern Sweden 由 Ketil Heimdal, Håkan Olsson, Steinar Tretli, Per Flodgren, A-L Børresen, S.D. Fosså

    出版 1996
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  4. 4
    Prognostic significance of TP53 alterations in breast carcinoma

    Prognostic significance of TP53 alterations in breast carcinoma 由 TI Andersen, Ruth Holm, J. M. Nesland, Ketil Heimdal, Lars Ottestad, A-L Børresen

    出版 1993
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  5. 5
    Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice

    Effectiveness and safety of everolimus treatment in patients with tuberous sclerosis complex in real-world clinical practice 由 Ine Cockerell, Jakob Christensen, Christina Engel Hoei‐Hansen, Lotte Holst, Mikkel Grenaa Frederiksen, Aart Imran Issa-Epe, Bård Nedregaard, Ragnar Solhoff, Ketil Heimdal, Cecilie Johannessen Landmark, Caroline Lund, Terje Nærland

    出版 2023
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  6. 6
    Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, <i>BRCA</i> mutations and oophorectomy

    Survival in prospectively ascertained familial breast cancer: Analysis of a series stratified by tumour characteristics, <i>BRCA</i> mutations and oophorectomy 由 Pål Møller, Åke Borg, D. Gareth Evans, Neva E. Haites, Marta M. Reis, Hans F. A. Vasen, Elaine Anderson, C. M. Steel, Jaran Apold, David Goudie, Anthony Howell, Fiona Lalloo, Lovise Mæhle, Helen Gregory, Ketil Heimdal

    出版 2002
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  7. 7
    Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis

    Inherited Mutations in PTEN That Are Associated with Breast Cancer, Cowden Disease, and Juvenile Polyposis 由 Eric D. Lynch, Elizabeth Ostermeyer, Ming K. Lee, J. Fernando Arena, Hanlee P. Ji, Jamie L. Dann, Karen Swisshelm, David Suchard, Patrick MacLeod, Stener Kvinnsland, Bjørn Tore Gjertsen, Ketil Heimdal, Herb Lubs, Pål Møller, Mary‐Claire King

    出版 1997
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  8. 8
    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity

    STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity 由 Ketil Heimdal, Mònica Sánchez-Guixé, Ingvild Aukrust, Jens Bollerslev, Ove Bruland, Greg Eigner Jablonski, Anne Kjersti Erichsen, Einar Gude, Jeanette Koht, Sigrid Erdal, Torunn Fiskerstrand, Bjørn Ivar Haukanes, Helge Boman, Lise Bjørkhaug, Chantal Tallaksen, Per M. Knappskog, Stefan Johansson

    出版 2014
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  9. 9
    The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation

    The Cardiac Phenotype in Patients With a <i>CHD7</i> Mutation 由 Nicole Corsten‐Janssen, Wilhelmina S. Kerstjens‐Frederikse, Gideon J. du Marchie Sarvaas, Maria E. Baardman, Marian K. Bakker, Jorieke E. H. Bergman, Hanne Hove, Ketil Heimdal, Cecilie F. Rustad, Raoul C. M. Hennekam, Robert M.W. Hofstra, Lies H. Hoefsloot, Conny M.A. van Ravenswaaij‐Arts, Livia Kapusta

    出版 2013
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  10. 10
    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience

    A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience 由 Mélanie Rama, Claire Duflos, Isabelle Melki, D. Bessis, A. Bonhomme, Hélène Martin, Diane Doummar, Stéphanie Valence, Diana Rodriguez, Emilie Carme, David Geneviève, Ketil Heimdal, Antonella Insalaco, Nathalie Franck, Viviane Queyrel‐Moranne, N. Tieulié, Jonathan London, Florence Uettwiller, Sophie Georgin‐Lavialle, Alexandre Bélot, Isabelle Koné‐Paut, Véronique Hentgen, Guilaine Boursier, Isabelle Touitou, Guillaume Sarrabay

    出版 2018
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  11. 11
    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability

    Heterozygous mutations affecting the protein kinase domain of <i>CDK13</i> cause a syndromic form of developmental delay and intellectual disability 由 Mark Hamilton, Richard Caswell, Natalie Canham, Trevor Cole, Helen V. Firth, Nicola Foulds, Ketil Heimdal, Emma Hobson, Gunnar Houge, Shelagh Joss, Dhavendra Kumar, Anne Katrin Lampe, Isabelle Maystadt, Victoria McKay, Kay Metcalfe, Ruth Newbury‐Ecob, Soo‐Mi Park, Leema Robert, Cecilie F. Rustad, Emma Wakeling, Andrew O.M. Wilkie, The Deciphering Developmental Disor Study, Stephen R.F. Twigg, Mohnish Suri

    出版 2017
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  12. 12
    Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa

    Comprehensive Clinical and Molecular Analysis of 12 Families with Type 1 Recessive Cutis Laxa 由 Bert Callewaert, Chi-Ting Su, Tim Van Damme, Philip Vlummens, Fransiska Malfait, Olivier Vanakker, Bianca Schulz, Meghan Mac Neal, Elaine C. Davis, Joseph G. H. Lee, Aïcha Salhi, Sheila Unger, Ketil Heimdal, Salomé de Almeida, Uwe Kornak, Harald Gaspar, J. Bresson, Katrina Prescott, Maria E. Gosendi, Sahar Mansour, Gérald Pierard, Suneeta Madan‐Khetarpal, Frank C. Sciurba, Sofie Symoens, Paul Coucke, Lionel Van Maldergem, Zsolt Urbán, Anne De Paepe

    出版 2012
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  13. 13
    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability

    Novel Mutations Including Deletions of the Entire<i>OFD1</i>Gene in 30 Families with Type 1 Orofaciodigital Syndrome: A Study of the Extensive Clinical Variability 由 Izak Johannes Bisschoff, Christine Zeschnigk, Denise Horn, Brigitte Wellek, Angelika Rieß, M.W. Wessels, P J Willems, Peter Bjødstrup Jensen, Andreas Busche, Jens Bekkebraten, Maya Chopra, Hanne Hove, Christina Evers, Ketil Heimdal, Ann-Sophie Kaiser, Erdmut Kunstmann, Kristina Lagerstedt‐Robinson, Maja Linné, Patricia Martín, James McGrath, Winnie Pradel, Katrina Prescott, Bernd Roesler, Goražd Rudolf, Ulrike Siebers‐Renelt, Nataliya Tyshchenko, Dagmar Wieczorek, G. Wolff, William B. Dobyns, Deborah Morris‐Rosendahl

    出版 2012
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  14. 14
    Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis

    Non-pheochromocytoma (PCC)/paraganglioma (PGL) tumors in patients with succinate dehydrogenase-related PCC–PGL syndromes: a clinicopathological and molecular analysis 由 Thomas Papathomas, José Gaal, Eleonora P.M. Corssmit, Lindsey Oudijk, Esther Korpershoek, Ketil Heimdal, Jean‐Pierre Bayley, Hans Morreau, Marieke van Dooren, Konstantinos Papaspyrou, Thomas Schreiner, Torsten Hansen, Per Arne Andresen, David F. Restuccia, Ingrid van Kessel, Geert J.L.H. van Leenders, Johan M. Kros, Leendert H. J. Looijenga, Leo J. Hofland, Wolf J. Mann, Francien H. van Nederveen, Özgür Mete, L. Sylvia, Ronald R. de Krijger, Winand N.M. Dinjens

    出版 2013
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  15. 15
    Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer

    Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer 由 Juul Wijnen, Hans F. A. Vasen, P. Meera Khan, Aeilko H. Zwinderman, Heleen van der Klift, Adri Mulder, Carli M.J. Tops, Pål Møller, Riccardo Fodde, Fred H. Menko, Babs G. Taal, Fokko M. Nagengast, Han G. Brunner, Jan H. Kleibeuker, Rolf H. Sijmons, Gerrit Griffioen, Annette Bröcker‐Vriends, Egbert Bakker, Inge van Leeuwen‐Cornelisse, Anne Meijers-Heijboer, Dick Lindhout, Martijn H. Breuning, Jan G. Post, C. Schaap, Jaran Apold, Ketil Heimdal, Lucio Bertario, Marie Luise Bisgaard, P Goetz

    出版 1998
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  16. 16
    Somatic mutations of KIT in familial testicular germ cell tumours

    Somatic mutations of KIT in familial testicular germ cell tumours 由 Elizabeth Rapley, Sarah L. Hockley, William Warren, L. Johnson, Robert Huddart, Gillian P. Crockford, D Forman, Michael Leahy, Dominik Oliver, Kathy Tucker, Michael Friedlander, Kelly‐Anne Phillips, David Hogg, Michael A.S. Jewett, Radka Lohynská, Gedske Daugaard, Richard J. Kahnoski, Axel Heidenreich, Lajos Géczi, I. Bodrogi, Edith Oláh, W. Ormiston, Peter A. Daly, Leendert H. J. Looijenga, Parry Guilford, Nina Aass, Sophie D. Fosså, Ketil Heimdal, Sergei Tjulandin, Л. Н. Любченко, Hans R. Stoll, William P. Weber, Lawrence H. Einhorn, Barbara L. Weber, Mary L. McMaster, Mark H. Greene, D. Timothy Bishop, Douglas F. Easton, Michael R. Stratton

    出版 2004
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  17. 17
    Genome-wide linkage screen for testicular germ cell tumour susceptibility loci

    Genome-wide linkage screen for testicular germ cell tumour susceptibility loci 由 Gillian P. Crockford, Rachel Linger, Sarah L. Hockley, Darshna Dudakia, Lola Johnson, Robert Huddart, Kathy Tucker, Michael Friedlander, Kelly‐Anne Phillips, David Hogg, Michael A.S. Jewett, Radka Lohynská, Gedske Daugaard, Richard J. Kahnoski, Agnès Chompret, Catherine Bonaïti‐Pellié, Axel Heidenreich, Peter Albers, Edith Oláh, Lajos Géczi, I. Bodrogi, W. Ormiston, Peter A. Daly, Parry Guilford, Sophie D. Fosså, Ketil Heimdal, Sergei Tjulandin, Ludmila Liubchenko, Hans R. Stoll, William P. Weber, David Forman, Timothy Oliver, Lawrence H. Einhorn, Mary L. McMaster, Joan L. Kramer, Mark H. Greene, Andrea Weber, Katherine L. Nathanson, Victoria K. Cortessis, Douglas F. Easton, D. Timothy Bishop, Michael R. Stratton, Elizabeth Rapley

    出版 2006
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  18. 18
    The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor

    The Y Deletion gr/gr and Susceptibility to Testicular Germ Cell Tumor 由 Katherine L. Nathanson, Peter A. Kanetsky, Rachel Hawes, David J. Vaughn, Richard Letrero, Kathy Tucker, Michael Friedlander, Kelly‐Anne Phillips, David Hogg, Michael A.S. Jewett, Radka Lohynská, Gedske Daugaard, Richard J. Kahnoski, Agnès Chompret, Catherine Bonaïti‐Pellié, Axel Heidenreich, Edith Oláh, Lajos Géczi, I. Bodrogi, W. Ormiston, Peter A. Daly, J. Wolter Oosterhuis, Ad Gillis, Leendert H. J. Looijenga, Parry Guilford, Sophie D. Fosså, Ketil Heimdal, Sergei Tjulandin, Ludmila Liubchenko, Hans R. Stoll, William P. Weber, Matthew Rudd, Robert Huddart, Gillian P. Crockford, David Forman, Dominik Oliver, Lawrence H. Einhorn, Andrea Weber, Joan L. Kramer, Mary L. McMaster, Mark H. Greene, Malcolm C. Pike, Victoria K. Cortessis, Chu Chen, Stephen M. Schwartz, D. Timothy Bishop, Douglas F. Easton, Michael R. Stratton, Elizabeth Rapley

    出版 2005
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  19. 19
    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules

    Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules 由 Daniel O Dodd, Sabrina Méchaussier, Patricia L. Yeyati, Fraser McPhie, Jacob R. Anderson, Chen Jing Khoo, Amelia Shoemark, Deepesh Kumar Gupta, Thomas Attard, Maimoona A. Zariwala, Marie Legendre, Diana Bracht, Julia Wallmeier, Miao Gui, Mahmoud R. Fassad, David Parry, Peter Tennant, Alison Meynert, Gabrielle Wheway, Lucas Fares‐Taie, Holly A. Black, Rana Mitri-Frangieh, Catherine Faucon, Josseline Kaplan, Mitali Patel, Lisa McKie, Roly Megaw, Christos Gatsogiannis, Mai A. Mohamed, Stuart Aitken, Philippe Gautier, Finn R. Reinholt, Robert A. Hirst, Chris O’Callaghan, Ketil Heimdal, Mathieu Bottier, Estelle Escudier, Suzanne Crowley, Maria Descartes, Ethylin Wang Jabs, Priti Kenia, Jeanne Amiel, Giacomo Maria Bacci, Claudia Calogero, Viviana Palazzo, Lucia Tiberi, Ulrike Blümlein, Andrew V. Rogers, Jennifer Wambach, D.J. Wegner, Anne B. Fulton, Margaret A. Kenna, Margaret Rosenfeld, Ingrid A. Holm, Alan J. Quigley, Emma A. Hall, Laura C. Murphy, Diane Cassidy, Alex von Kriegsheim, Jean‐François Papon, Laurent Pasquier, Marlène Murris, James D. Chalmers, Claire Hogg, Kenneth Macleod, Don S. Urquhart, Stefan Unger, Timothy J. Aitman, Serge Amselem, Margaret W. Leigh, Michael R. Knowles, Heymut Omran, Hannah M. Mitchison, Alan Brown, Joseph A. Marsh, Julie P. I. Welburn, Shih-Chieh Ti, Amjad Horani, Jean‐Michel Rozet, Isabelle Perrault, Pleasantine Mill

    出版 2024
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  20. 20
    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

    Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders 由 Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon, Tomasz Gambin, Iván K. Chinn, Zeynep H. Coban Akdemir, Hans Christian Erichsen, Lisa R. Forbes, Shen Gu, Bo Yuan, Shalini N. Jhangiani, Donna M. Muzny, Olaug K. Rødningen, Ying Sheng, Sarah K. Nicholas, Lenora M. Noroski, Filiz O. Seeborg, Carla M. Davis, Debra Canter, Emily M. Mace, Timothy J. Vece, Carl E. Allen, Harshal Abhyankar, Philip M. Boone, Christine R. Beck, Wojciech Wiszniewski, Børre Fevang, Pål Aukrust, Geir E. Tjønnfjord, Tobias Gedde‐Dahl, Henrik Hjorth‐Hansen, Ingunn Dybedal, Ingvild Nordøy, Silje F. Jørgensen, Tore G. Abrahamsen, Torstein Øverland, Anne Grete Bechensteen, Vegard Skogen, Liv Osnes, Mari Ann Kulseth, Trine Prescott, Cecilie F. Rustad, Ketil Heimdal, John W. Belmont, Nicholas L. Rider, Javier Chinen, Tram N. Cao, Eric A. Smith, María Soledad Caldirola, Liliana Bezrodnik, Saúl Oswaldo Lugo Reyes, Francisco Espinosa‐Rosales, Nina Denisse Guerrero-Cursaru, Luis Alberto Pedroza, M. Cecilia Poli, José Luis Franco, Claudia Milena Trujillo Vargas, Juan Carlos Aldave Becerra, Nicola Wright, Thomas B. Issekutz, Andrew C. Issekutz, Jordan K. Abbott, Jason W. Caldwell, Diana K. Bayer, Alice Chan, Alessandro Aiuti, Caterina Cancrini, Eva Holmberg, Christina West, Magnus Burstedt, Ender Karaca, Gözde Yeşil, Hasibe Artaç, Yavuz Bayram, Mehmed M. Atik, Mohammad K. Eldomery, Mohammad Ehlayel, Stephen Jolles, Berit Flatø, Alison A. Bertuch, I. Celine Hanson, Victor Wei Zhang, Lee-Jun Wong, Jianhong Hu, Magdalena Walkiewicz, Yaping Yang, Christine M. Eng, Eric Boerwinkle, Richard A. Gibbs, William T. Shearer, Robert Lyle, Jordan S. Orange, James R. Lupski

    出版 2016
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