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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 Geneticsمصطلحات 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
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المؤلفون: Lee, Jh, Silhavy, Jl, Lee, Je, Al Gazali, L, Thomas, S, Davis, Ee, Bielas, Sl, Hill, Kj, Gabriel, Sb, Brancati, F, Iannicelli, M, Russ, C, Logan, Cv, Sharif, Sm, Bennett, Cp, Abe, M, Hildebrandt, F, Diplas, Bh, Attié Bitach, T, Katsanis, N, Rajab, A, Koul, R, Sztriha, L, Waters, E, Ferro Novick, S, Woods, Gc, Johnson, Ca, Valente, Enza Maria, Zaki, Ms, Gleeson, J. G.
URL الوصول: https://explore.openaire.eu/search/publication?articleId=od______3978::bbd833e8e6c81cb0c5dec78a01cf5133
http://hdl.handle.net/11570/1938202 -
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المؤلفون: Bennett Cp, Robb Sa, Chaudhuri R, Martin Nd, Hourihane Jo
المصدر: Neuropediatrics. 24(1)
مصطلحات موضوعية: musculoskeletal diseases, Male, Cerebellum, Developmental Disabilities, Neuronal migration, Congenital lymphedema, Consanguinity, Cerebellar malformation, medicine, Humans, Lymphedema, Walker–Warburg syndrome, Cerebellar hypoplasia, Cerebral Cortex, business.industry, Brain, Electroencephalography, General Medicine, Anatomy, medicine.disease, Magnetic Resonance Imaging, Hypoplasia, Pedigree, Radiography, medicine.anatomical_structure, Child, Preschool, Pediatrics, Perinatology and Child Health, Cell Migration Inhibition, Evoked Potentials, Visual, Neurology (clinical), business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f01c2ef68655fc3cf506a7d75108a13
https://pubmed.ncbi.nlm.nih.gov/7682675 -
4دورية أكاديمية
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5دورية أكاديمية
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6دورية أكاديمية
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7دورية أكاديمية
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8دورية أكاديمية
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المؤلفون: Seller Mj, Barnicoat Aj, Bennett Cp
المصدر: Clinical Dysmorphology. 3:353
مصطلحات موضوعية: Male fetus, Fetus, Absent clavicles, business.industry, CRANE-HEISE SYNDROME, General Medicine, Anatomy, Pathology and Forensic Medicine, Genital hypoplasia, medicine.anatomical_structure, Tongue, embryonic structures, Pediatrics, Perinatology and Child Health, AMINOPTERIN SYNDROME SINE AMINOPTERIN, Medicine, Digital anomalies, business, reproductive and urinary physiology, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7887d3b86d7e67287435a1f7cb4f1d20
https://doi.org/10.1097/00019605-199410000-00013 -
10دورية
المؤلفون: Sinha, GP, Curtis, P, Haigh, D, Lealman, GT, Dodds, W, Bennett, CP
المصدر: Rheumatology; November 1997, Vol. 36 Issue: 11 p1224-1227, 4p
