المؤلفون: Bengani, H, Handley, M, Alvi, M, Ibitoye, R, Lees, M, Lynch, SA, Lam, W, Fannemel, M, Nordgren, A, Malmgren, H, Kvarnung, M, Mehta, S, McKee, S, Whiteford, M, Stewart, F, Connell, F, Clayton-Smith, J, Mansour, S, Mohammed, S, Fryer, A, Morton, J, Grozeva, D, Asam, T, Moore, D, Sifrim, A, McRae, J, Hurles, ME, Firth, HV, Raymond, FL, Kini, U, Nellaker, C, FitzPatrick, DR

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 19(8):900-908

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:136326802

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المؤلفون: Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, Ş, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

URL الوصول: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::48d203a5b8f53faecae0adec09efffe1
https://doi.org/10.1136/jmedgenet-2014-102573

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المؤلفون: Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, AM, Bengani, H, Chan, CY, Kayserili, H, Avci, S, Hennekam, RC, Lampe, AK, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, MJ, Cook, JA, Splitt, M, Fisher, RB, Fryer, A, Magee, AC, Wilkie, A, Barnicoat, A, Brady, AF, Cooper, NS, Mercer, C, Deshpande, C, Bennett, CP, Pilz, DT, Ruddy, D, Cilliers, D, Johnson, DS, Josifova, D, Rosser, E, Thompson, EM, Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, KM, Cox, H, Firth, HV, Kingston, H, Wee, JS, Hurst, JA, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M, McEntagart, M, Davidson, R, Lynch, SA, Sisodiya, S, Mehta, SG, McKee, SA, Mohammed, S, Holden, S, Park, SM, Holder, SE, Harrison, V, McConnell, V, Lam, WK, Green, AJ, Donnai, D, Bitner-Glindzicz, M, Donnelly, DE, Nellåker, C, Taylor, MS, FitzPatrick, DR

المساهمون: ANS - Amsterdam Neuroscience, APH - Amsterdam Public Health, Human Genetics, ACS - Amsterdam Cardiovascular Sciences, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Other Research

المصدر: Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A M, Bengani, H, Chan, C Y, Kayserili, H, Avci, Ş, Hennekam, R C M, Lampe, A K, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M J, Cook, J A, Splitt, M, Fisher, R B, Fryer, A, Magee, A C, Wilkie, A, Barnicoat, A, Brady, A F, Cooper, N S, Mercer, C, Deshpande, C, Bennett, C P, Pilz, D T, Ruddy, D, Cilliers, D, Johnson, D S, Josifova, D, Rosser, E, Thompson, E M, Wakeling, E, Kinning, E, Stewart, F, Flinter, F, Girisha, K M, Cox, H, Firth, H V, Kingston, H, Wee, J S, Hurst, J A, Clayton-Smith, J, Tolmie, J, Vogt, J, Tatton-Brown, K, Chandler, K, Prescott, K, Wilson, L, Behnam, M, McEntagart, M, Davidson, R, Lynch, S-A, Sisodiya, S, Mehta, S G, McKee, S A, Mohammed, S, Holden, S, Park, S-M, Holder, S E, Harrison, V, McConnell, V, Lam, W K, Green, A J, Donnai, D, Bitner-Glindzicz, M, Donnelly, D E, Nellåker, C, Taylor, M S & FitzPatrick, D R 2014, ' Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism ', Journal of Medical Genetics, vol. 51, no. 10, pp. 659-668 . https://doi.org/10.1136/jmedgenet-2014-102573
Journal of medical genetics, 51(10), 659-668. BMJ Publishing Group
Journal of Medical Genetics

مصطلحات موضوعية: Genetic Heterogeneity, Copy-number, Phenotype, Mosaicism, De Lange Syndrome, Face, Mutation, Genotype-Phenotype Correlations, Humans, Molecular genetics, Clinical genetics, Genetic Association Studies

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::22580a9aa8f6dc594c7b758b35b52be9
http://ora.ox.ac.uk/objects/uuid:57e64891-0efb-4ddd-a616-76cee1cd8b8d

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