Zobrazeno 1 - 10
of 332
pro vyhledávání: '"van Roozendaal K"'
Autor:
Vorsteveld EE; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Van der Made CI; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands., Smeekens SP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Schuurs-Hoeijmakers JH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Astuti G; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Diepstra H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Hoenselaar E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Janssen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Engelen JS; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Steyaert W; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Weiss MM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Mantere T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Laboratory of Cancer Genetics and Tumor Biology, Translational Medicine Research Unit and Biocenter Oulu, University of Oulu, Oulu, Finland., AlZahrani MS; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., van Aerde K; Department of Paediatrics, Amalia Children's Hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Derfalvi B; Division of Immunology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Faqeih EA; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Henriet SSV; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Pediatric Infectious Diseases and Immunology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, The Netherlands., van Hoof E; Department of Rheumatology, Radboud University Medical Center, Nijmegen, The Netherlands., Idressi E; Department of Pediatrics, Children's specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Issekutz TB; Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada., Jongmans MCJ; Princess Máxima Center for Pediatric Oncology and Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Keski-Filppula R; PEDEGO Research Unit, University of Oulu, Oulu, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu, Finland; Medical Research Center Oulu, University of Oulu and Oulu University Hospital, Oulu, Finland., Krapels I; Department of Clinical Genetics, Maastricht University Medical Center+, Maastricht, The Netherlands., Te Loo M; Department of Pediatric Hematology, Amalia children's hospital, Radboud University Medical Centre, Nijmegen, The Netherlands., Mulders-Manders CM; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands., Ten Oever J; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., Potjewijd J; Department of Internal Medicine, Division of Experimental and Clinical Immunology, Maastricht University Medical Center, Maastricht, The Netherlands., Sarhan NT; Section of Medical Genetics, Children's Specialist Hospital, King Fahad Medical City, Riyadh, Saudi Arabia., Slot MC; Department of Allergology and Clinical Immunology, Maastricht UMC+, Maastricht, The Netherlands., Terhal PA; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Thijs H; Department of Pediatrics, Gelre Ziekenhuizen Zutphen, The Netherlands., Vandersteen A; Division of Medical Genetics, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada; Maritime Medical Genetics Service, IWK Health Centre, Halifax, Nova Scotia, Canada., Vanhoutte EK; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van de Veerdonk F; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands., van Well G; Department of Paediatrics, Maastricht University Medical Center, MosaKids Children's Hospital, Maastricht, The Netherlands., Netea MG; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands; Department of Immunology and Metabolism, Life and Medical Sciences Institute, University of Bonn, Bonn, Germany., Simons A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Hoischen A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; RadboudUMC Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Radboud Expertise Center for Immunodeficiency and Autoinflammation, Radboud University Medical Center, Nijmegen, The Netherlands; Radboud Centre for Infectious Diseases (RCI), Radboud University Medical Centre, Nijmegen, The Netherlands. Electronic address: alexander.hoischen@radboudumc.nl.
Publikováno v:
Clinical immunology (Orlando, Fla.) [Clin Immunol] 2024 Nov; Vol. 268, pp. 110375. Date of Electronic Publication: 2024 Oct 05.
Autor:
Ramus, Susan J., Antoniou, Antonis C., Kuchenbaecker, Karoline B., Penny, Soucy, Jonathan, Beesley, Xiaoqing, Chen, Lesley, Mcguffog, Sinilnikova, Olga M., Sue, Healey, Daniel, Barrowdale, Andrew, Lee, Mads, Thomassen, Anne Marie Gerdes, Kruse, Torben A., Uffe Birk Jensen, Anne Bine Skytte, Caligo, Maria A., Annelie, Liljegren, Annika, Lindblom, Hakan, Olsson, Ulf, Kristoffersson, Marie Stenmark Askmalm, Swe Brca Melin, B., Swe, Brca, Domchek, Susan M., Domchek, Sm, Nathanson, Katherine L., Rebbeck, Timothy R., Anna, Jakubowska, Jan, Lubinski, Katarzyna, Jaworska, Katarzyna, Durda, Elzbieta, Złowocka, Jacek, Gronwald, Tomasz, Huzarski, Tomasz, Byrski, Cezary, Cybulski, Aleksandra Toloczko Grabarek, Ana, Osorio, Javier, Benitez, Mercedes, Duran, Maria Isabel Tejada, Ute, Hamann, Matti, Rookus, Van Leeuwen, Flora E., Aalfs, Cora M., Meijers Heijboer, Hanne E. J., Van Asperen, Christi J., Van Roozendaal, K. E. P., Nicoline, Hoogerbrugge, Collee, Margriet J., Margriet Collee, J., Mieke, Kriege, Hebon Van Der Luijt, R. B., Embrace, Embrace, Hebon, Susan, Peock, Debra, Frost, Ellis, Steve D., Radka, Platte, Elena, Fineberg, Gareth Evans, D., Fiona, Lalloo, Chris, Jacobs, Ros, Eeles, Julian, Adlard, Rosemarie, Davidson, Diana, Eccles, Trevor, Cole, Jackie, Cook, Joan, Paterson, Fiona, Douglas, Carole, Brewer, Shirley, Hodgson, Morrison, Patrick J., Lisa, Walker, Porteous, Mary E., John Kennedy, M., Harsh, Pathak, Godwin, Andrew K., Dominique Stoppa Lyonnet, Virginie Caux Moncoutier, Antoine Pauw, D. E., De Pauw, A., Marion Gauthier Villars, Sylvie, Mazoyer, Melanie, Leone, Alain, Calender, Christine, Lasset, Valerie, Bonadona, Agnes, Hardouin, Pascaline, Berthet, Yves Jean Bignon, Nancy, Uhrhammer, Laurence, Faivre, Catherine, Loustalot, Gemo, Saundra, Buys, Mary, Daly, Buys, Daly, S., Alex, Miron, Beth, Terry M., Mary Beth Terry, Terry, M. B., Chung, Wendy K., Esther, John M., John, Em, Melissa, Southey, David, Goldgar, Singer, Christian F., Muy Kheng Tea, Georg, Pfeiler, Anneliese Fink Retter, Hansen, Thomas V. O., Hansen, Tv, Bent, Ejlertsen, Oskar Th Johannsson, Kenneth, Offit, Tomas, Kirchhoff, Gaudet, Mia M., Joseph, Vijai, Mark, Robson, Marion, Piedmonte, Kelly Anne Phillips, Linda Van Le, Hoffman, James S., Amanda Ewart Toland, Ewart Toland, A., Marco, Montagna, Silvia, Tognazzo, Evgeny, Imyanitov, Claudine, Isaacs, Issacs, C., Ramunas, Janavicius, Conxi, Lazaro, Ignacio, Blanco, Eva, Tornero, Matilde, Navarro, Moysich, Kirsten B., Karlan, Beth Y., Jenny, Gross, Edith, Olah, Tibor, Vaszko, Soo Hwang Teo, Ganz, Patricia A., Beattie, Mary S., Dorfling, Cecelia M., Van Rensburg, Elizabeth J., Orland, Diez, Ava, Kwong, Schmutzler, Rita K., Barbara, Wappenschmidt, Christoph, Engel, Alfons, Meindl, Nina, Ditsch, Norbert, Arnold, Simone, Heidemann, Dieter, Niederacher, Sabine Preisler Adams, Dorotehea, Gadzicki, Raymonda Varon Mateeva, Helmut, Deissler, Andrea, Gehrig, Christian, Sutter, Karin, Kast, Britta, Fiebig, Dieter, Schafer, Trinidad, Caldes, Miguel De La Hoya, Heli, Nevanlinna, Kristiina, Aittomaki, Marie, Plante, Kconfab Spurdle, A. B., Kconfab, Neuhausen, Susan L., Neuhausen, Sl, Yuan Chun Ding, Xianshu, Wang, Noralane, Lindor, Zachary, Fredericksen, Shane Pankratz, V., Paolo, Peterlongo, Siranoush, Manoukian, Bernard, Peissel, Daniela, Zaffaroni, Bernardo, Bonanni, Loris, Bernard, Riccardo, Dolcetti, Laura, Papi, Ottini, Laura, Paolo, Radice, Greene, Mark H., Mai, Phuong L., Andrulis, Irene L., Gord, Glendon, Ocgn Ozcelik, H., Ocgn, Pharoah, Paul D. P., Pharoah, Pd, Gayther, Simon A., Jacques, Simard, Easton, Douglas F., Couch, Fergus J., Georgia Chenevix Trench, Behalf Of The Consortium Of Investigators Of Modifiers Of Brca1/2, O. N.
Publikováno v:
Human Mutation
Human Mutation, Wiley, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Human mutation, 33(4), 690-702. Wiley-Liss Inc.
Human Mutation, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Human Mutation; Vol 33
Human Mutation, 33, 690-702
Human Mutation, 33, 4, pp. 690-702
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A R, Thomassen, M, Gerdes, A-M A, Kruse, T A, Jensen, U B, Skytte, A-B S, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Hansen, T V O & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702. Wiley
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A, Thomassen, M, Gerdes, A-M, Kruse, T A, Jensen, U B, Skytte, A-B, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Kriege, M & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702
Human Mutation, 33(4), 690-702. Wiley-Liss Inc.
Human Mutation, Wiley, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Recercat. Dipósit de la Recerca de Catalunya
instname
Human mutation, 33(4), 690-702. Wiley-Liss Inc.
Human Mutation, 2012, 33, pp.690-702. ⟨10.1002/humu.22025⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Human Mutation; Vol 33
Human Mutation, 33, 690-702
Human Mutation, 33, 4, pp. 690-702
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A R, Thomassen, M, Gerdes, A-M A, Kruse, T A, Jensen, U B, Skytte, A-B S, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Hansen, T V O & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702. Wiley
Ramus, S J, Antoniou, A C, Kuchenbaecker, K B, Soucy, P, Beesley, J, Chen, X, McGuffog, L, Sinilnikova, O M, Healey, S, Barrowdale, D, Lee, A, Thomassen, M, Gerdes, A-M, Kruse, T A, Jensen, U B, Skytte, A-B, Caligo, M A, Liljegren, A, Lindblom, A, Olsson, H, Kristoffersson, U, Stenmark-Askmalm, M, Melin, B, Domchek, S M, Nathanson, K L, Rebbeck, T R, Jakubowska, A, Lubinski, J, Jaworska, K, Durda, K, Złowocka, E, Gronwald, J, Huzarski, T, Byrski, T, Cybulski, C, Toloczko-Grabarek, A, Osorio, A, Benitez, J, Duran, M, Tejada, M-I, Hamann, U, Rookus, M, van Leeuwen, F E, Aalfs, C M, Meijers-Heijboer, H E J, van Asperen, C J, van Roozendaal, K E P, Hoogerbrugge, N, Collée, J M, Kriege, M & SWE-BRCA 2012, ' Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers ', Human Mutation, vol. 33, no. 4, pp. 690-702 . https://doi.org/10.1002/humu.22025
Human Mutation, 33(4), 690-702
Human Mutation, 33(4), 690-702. Wiley-Liss Inc.
Germline mutations in BRCA1 and BRCA2 are associated with increased risks of breast and ovarian cancer. A genome-wide association study (GWAS) identified six alleles associated with risk of ovarian cancer for women in the general population. We evalu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::886c548d4d0ecd806f9e2a03ffa5654c
https://hdl.handle.net/1887/97590
https://hdl.handle.net/1887/97590
Autor:
Frints SGM; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Hennig F; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Colombo R; Catholic University of the Sacred Heart, Rome, Italy.; Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy., Jacquemont S; Service de Génétique Médicale, CHUV, Lausanne, Switzerland., Terhal P; Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands., Zimmerman HH; Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi., Hunt D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK., Mendelsohn BA; Division of Genetics, Department of Pediatrics, University of California, San Francisco, California., Kordaß U; MVZ für Humangenetik und Molekularpathologie GmbH, Greifswald, Germany., Webster R; The Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Abdul-Rahman O; Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska., Suckow V; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany., Fernández-Jaén A; Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain., van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Macville MVE; Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.; Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands., Al-Nasiry S; Department of Obstetrics and Gynecology, Prenatal Diagnostics & Therapy, Maastricht University Medical Center+, Maastricht, The Netherlands., van Gassen K; Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands., Utzig N; Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Greifswald, Greifswald, Germany., Koudijs SM; Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands., McGregor L; SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia., Maas SM; Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands., Baralle D; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Faculty of Medicine, University of Southampton, Southampton, UK., Dixit A; City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK., Wieacker P; Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Münster, Germany., Lee M; Department of Pediatrics, Division of Pediatric Neurology, University of Mississippi Medical Center, Jackson, Mississippi., Lee AS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Engle EC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Broad Institute of MIT and Harvard, Cambridge, Massachusetts.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.; Howard Hughes Medical Institute, Chevy Chase, Maryland., Houge G; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Gradek GA; Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway., Douglas AGL; Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.; Human Development and Health, Faculty of Medicine, University of Southampton, UK., Longman C; West of Scotland Regional Genetic Centre, Queen Elizabeth University Hospital, Glasgow, Scotland, UK., Joss S; West of Scotland Regional Genetic Centre, Queen Elizabeth University Hospital, Glasgow, Scotland, UK., Velasco D; Department of Pediatrics, Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska., Hennekam RC; Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands., Hirata H; Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan., Kalscheuer VM; Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
Publikováno v:
Human mutation [Hum Mutat] 2019 Dec; Vol. 40 (12), pp. 2270-2285. Date of Electronic Publication: 2019 Aug 21.
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Autor:
Stevens SJ; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), PO Box 5800, 6202, AZ, Maastricht, The Netherlands. servi.stevens@mumc.nl., van Essen AJ; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), Groningen, The Netherlands., van Ravenswaaij CM; Department of Genetics, University of Groningen, University Medical Center Groningen (UMCG), Groningen, The Netherlands., Elias AF; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT, USA., Haven JA; Department of Medical Genetics, Shodair Children's Hospital, Helena, MT, USA., Lelieveld SH; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., Pfundt R; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., Nillesen WM; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., Yntema HG; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., van Roozendaal K; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), PO Box 5800, 6202, AZ, Maastricht, The Netherlands.; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., Stegmann AP; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), PO Box 5800, 6202, AZ, Maastricht, The Netherlands., Gilissen C; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center (MUMC+), PO Box 5800, 6202, AZ, Maastricht, The Netherlands.; Department of Genetics, Radboud University Medical Center (RUMC), Nijmegen, The Netherlands.
Publikováno v:
Genome medicine [Genome Med] 2016 Dec 13; Vol. 8 (1), pp. 131. Date of Electronic Publication: 2016 Dec 13.