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1دورية أكاديمية
المؤلفون: 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.Aff10, Aff33, Hennekam, Raoul C.Aff21
المصدر: Nature Reviews Genetics. 19(10):649-666
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المؤلفون: Chris Oliver, Anna Cereda, Julia O'Connor, Claudia Rigamonti, Ingrid D. C. van Balkom, Whitney Guthrie, David R. FitzPatrick, Paul A. Mulder, Angell Shi, Sylvia A. Huisman, Stacey L. Ishman, Matthew A. Deardorff, Lynne M. Kerr, Sigrid Piening, Joseph P. McCleery, Valérie Cormier-Daire, Peter M. Gillett, David Axtell, Antonella Costantino, Egbert J.W. Redeker, Carol J. Potter, Alex V. Levin, Angelo Selicorni, Raoul C.M. Hennekam, Natalie Blagowidow, Marco A. Grados, Mary Levis, Feliciano J. Ramos, Frank J. Kaiser, Zeynep Tümer, Joanna Moss, Juan Pié, Gerritjan Koekkoek, Laura Groves, Milena Mariani, Paola Francesca Ajmone, Amy Metrena, Ana L. Quaglio, Anne Marie Bisgaard, Leonie A. Menke, Jolanta Wierzba, Antonie D. Kline, David M. Richman
المصدر: Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tumer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews Genetics, vol. 19, no. 10, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0
Nature Reviews. Genetics
Kline, A D, Moss, J F, Selicorni, A, Bisgaard, A-M, Deardorff, M A, Gillett, P M, Ishman, S L, Kerr, L M, Levin, A V, Mulder, P A, Ramos, F J, Wierzba, J, Ajmone, P F, Axtell, D, Blagowidow, N, Cereda, A, Costantino, A, Cormier-Daire, V, FitzPatrick, D, Grados, M, Groves, L, Guthrie, W, Huisman, S, Kaiser, F J, Koekkoek, G, Levis, M, Mariani, M, McCleery, J P, Menke, L A, Metrena, A, O'Connor, J, Oliver, C, Pie, J, Piening, S, Potter, C J, Quaglio, A L, Redeker, E, Richman, D, Rigamonti, C, Shi, A, Tümer, Z, Van Balkom, I D C & Hennekam, R C 2018, ' Diagnosis and management of Cornelia de Lange syndrome : first international consensus statement ', Nature Reviews. Genetics, vol. 19, pp. 649-666 . https://doi.org/10.1038/s41576-018-0031-0مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Consensus, Genetic testing, Cornelia de Lange Syndrome, Genetic syndromes, Cohesin complex, Statement (logic), BRACHMANN-DELANGE-SYNDROME, Signs and symptoms, Biology, 03 medical and health sciences, De Lange Syndrome, Intellectual disability, Genetics, medicine, Humans, Clinical genetics, Psychiatry, Molecular Biology, Genetic Association Studies, Genetics (clinical), GENOTYPE-PHENOTYPE CORRELATIONS, Genetic counselling, Disease genetics, AUTISM SPECTRUM DISORDER, Medical genetics, Consensus Statement, SELF-INJURIOUS-BEHAVIOR, High-Throughput Nucleotide Sequencing, Molecular diagnostics, medicine.disease, CONGENITAL DIAPHRAGMATIC-HERNIA, 030104 developmental biology, DU-CHAT-SYNDROMES, OF-THE-LITERATURE, AUTOSOMAL-DOMINANT INHERITANCE, Mutation, Marked heterogeneity, RUBINSTEIN-TAYBI SYNDROMES, TO-MALE TRANSMISSION
وصف الملف: application/pdf
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المؤلفون: A D Kline, J F Selicorni, A Bisgaard, A Deardorff, M A Gillett, S L Kerr, L M Levin, A V Mulder, P A Ramos, P F Axtell, N Cereda, A Costantino, A Cormier-Daire, V Fitzpatrick, M Groves, L Guthrie, W Huisman, S Kaiser, F J Koekkoek, G Levis, M Mariani, J P Menke, L A Metrena, A O'connor, J Oliver, A L Quaglio, E Richman, C Shi, Balkom, Van, I D C Hennekam, Shelley, Lauren, Royston, Rachel, Oliver, Chris, Kline, Tonie, Fitzpatrick, David, Harris, Bjorn, Knight, Steve, Peaford, Alan, Harris, Jules, Axtell, David, Blockley, Charlie, Peaford, Sara, Blockley, Natalie
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6102e9ba8ba19e73eb4492c37b42dfa6
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المؤلفون: Kline, A.D., Moss, J.F., Selicorni, A., Bisgaard, A.M., Deardorff, M.A., Gillett, P.M., Ishman, S.L., Kerr, L.M., Levin, A.V., Mulder, P.A., Ramos, F.J., Wierzba, Jl, Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F.J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J.P., Menke, L.A., Metrena, A, O'Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C.J., Quaglio, A.L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I.D.C., Hennekam, R.C.
المصدر: Zaguán. Repositorio Digital de la Universidad de Zaragoza
instnameوصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::72dda7662033c077666a24fd9297d355
http://zaguan.unizar.es/record/75698