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المؤلفون: Stuart Aitken, Helen V. Firth, Jeremy McRae, Mihail Halachev, Usha Kini, Michael J. Parker, Melissa M. Lees, Katherine Lachlan, Ajoy Sarkar, Shelagh Joss, Miranda Splitt, Shane McKee, Andrea H. Németh, Richard H. Scott, Caroline F. Wright, Joseph A. Marsh, Matthew E. Hurles, David R. FitzPatrick, T.W. Fitzgerald, S.S. Gerety, W.D. Jones, M. van Kogelenberg, D.A. King, J. McRae, K.I. Morley, V. Parthiban, S. Al-Turki, K. Ambridge, D.M. Barrett, T. Bayzetinova, S. Clayton, E.L. Coomber, S. Gribble, P. Jones, N. Krishnappa, L.E. Mason, A. Middleton, R. Miller, E. Prigmore, D. Rajan, A. Sifrim, A.R. Tivey, M. Ahmed, N. Akawi, R. Andrews, U. Anjum, H. Archer, R. Armstrong, M. Balasubramanian, R. Banerjee, D. Barelle, P. Batstone, D. Baty, C. Bennett, J. Berg, B. Bernhard, A.P. Bevan, E. Blair, M. Blyth, D. Bohanna, L. Bourdon, D. Bourn, A. Brady, E. Bragin, C. Brewer, L. Brueton, K. Brunstrom, S.J. Bumpstead, D.J. Bunyan, J. Burn, J. Burton, N. Canham, B. Castle, K. Chandler, S. Clasper, J. Clayton-Smith, T. Cole, A. Collins, M.N. Collinson, F. Connell, N. Cooper, H. Cox, L. Cresswell, G. Cross, Y. Crow, P.M. D’Alessandro, T. Dabir, R. Davidson, S. Davies, J. Dean, C. Deshpande, G. Devlin, A. Dixit, A. Dominiczak, C. Donnelly, D. Donnelly, A. Douglas, A. Duncan, J. Eason, S. Edkins, S. Ellard, P. Ellis, F. Elmslie, K. Evans, S. Everest, T. Fendick, R. Fisher, F. Flinter, N. Foulds, A. Fryer, B. Fu, C. Gardiner, L. Gaunt, N. Ghali, R. Gibbons, S.L. Gomes Pereira, J. Goodship, D. Goudie, E. Gray, P. Greene, L. Greenhalgh, L. Harrison, R. Hawkins, S. Hellens, A. Henderson, E. Hobson, S. Holden, S. Holder, G. Hollingsworth, T. Homfray, M. Humphreys, J. Hurst, S. Ingram, M. Irving, J. Jarvis, L. Jenkins, D. Johnson, D. Jones, E. Jones, D. Josifova, S. Joss, B. Kaemba, S. Kazembe, B. Kerr, U. Kini, E. Kinning, G. Kirby, C. Kirk, E. Kivuva, A. Kraus, D. Kumar, K. Lachlan, W. Lam, A. Lampe, C. Langman, M. Lees, D. Lim, G. Lowther, S.A. Lynch, A. Magee, E. Maher, S. Mansour, K. Marks, K. Martin, U. Maye, E. McCann, V. McConnell, M. McEntagart, R. McGowan, K. McKay, S. McKee, D.J. McMullan, S. McNerlan, S. Mehta, K. Metcalfe, E. Miles, S. Mohammed, T. Montgomery, D. Moore, S. Morgan, A. Morris, J. Morton, H. Mugalaasi, V. Murday, L. Nevitt, R. Newbury-Ecob, A. Norman, R. O’Shea, C. Ogilvie, S. Park, M.J. Parker, C. Patel, J. Paterson, S. Payne, J. Phipps, D.T. Pilz, D. Porteous, N. Pratt, K. Prescott, S. Price, A. Pridham, A. Proctor, H. Purnell, N. Ragge, J. Rankin, L. Raymond, D. Rice, L. Robert, E. Roberts, G. Roberts, J. Roberts, P. Roberts, A. Ross, E. Rosser, A. Saggar, S. Samant, R. Sandford, A. Sarkar, S. Schweiger, C. Scott, R. Scott, A. Selby, A. Seller, C. Sequeira, N. Shannon, S. Sharif, C. Shaw-Smith, E. Shearing, D. Shears, I. Simonic, D. Simpkin, R. Singzon, Z. Skitt, A. Smith, B. Smith, K. Smith, S. Smithson, L. Sneddon, M. Splitt, M. Squires, F. Stewart, H. Stewart, M. Suri, V. Sutton, G.J. Swaminathan, E. Sweeney, K. Tatton-Brown, C. Taylor, R. Taylor, M. Tein, I.K. Temple, J. Thomson, J. Tolmie, A. Torokwa, B. Treacy, C. Turner, P. Turnpenny, C. Tysoe, A. Vandersteen, P. Vasudevan, J. Vogt, E. Wakeling, D. Walker, J. Waters, A. Weber, D. Wellesley, M. Whiteford, S. Widaa, S. Wilcox, D. Williams, N. Williams, G. Woods, C. Wragg, M. Wright, F. Yang, M. Yau, N.P. Carter, M. Parker, H.V. Firth, D.R. FitzPatrick, C.F. Wright, J.C. Barrett, M.E. Hurles
المصدر: American Journal of Human Genetics
Aitken, J, Firth, H V, McRae, J, Halachev, M, Kini, U, Parker, M J, Lees, M M, Lachlan, K, Sarkar, A, Joss, S, Splitt, M, McKee, S, Németh, A H, Scott, R H, Wright, C F, Marsh, J, Hurles, M E, FitzPatrick, D 2019, ' Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data ', American Journal of Human Genetics . https://doi.org/10.1016/j.ajhg.2019.09.015مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Nonsynonymous substitution, Heterozygote, phenotype, Developmental Disabilities, genotype, Dwarfism, Biology, Article, naive Bayes, 03 medical and health sciences, 0302 clinical medicine, Gene Frequency, Similarity (network science), developmental disease, Exome Sequencing, Genotype, Genetics, medicine, Humans, tSNE, Exome, Genetic Predisposition to Disease, Child, Gene, Allele frequency, Genetics (clinical), Spectrin, Bayes Theorem, medicine.disease, Repressor Proteins, Developmental disorder, 030104 developmental biology, Mutation, Mutation (genetic algorithm), Female, 030217 neurology & neurosurgery
وصف الملف: application/pdf; application/vnd.openxmlformats-officedocument.wordprocessingml.document
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8438162f307fa6cb5836ae7a28494148
https://doi.org/10.1016/j.ajhg.2019.09.015 -
2دورية أكاديمية
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المؤلفون: null G.C. Wright, null R. Brown, null H. Grayton, null J.H. Livingston, null S.‐M. Park, null A.P.J. Parker, null A. Patel, null I. Simonic, null A.G. Thomas, null G. Vadlamani, null R. Horvath, null P.D. Harijan
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::0720788d3921314dc34c09b050e683f5
https://doi.org/10.1111/cge.13771/v2/response1 -
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المؤلفون: R Johnson, N Bown, S Imrie, L Grimsley, G Fews, CJ English, S Trueman, C Delmege, P Batstone, A Kulkarni, CA Waterman, Dominic J. McMullan, M Wall, SM Morgan, I Simonic, K Mann, P Roberts, L Cresswell
المصدر: BJOG : an international journal of obstetrics and gynaecology. 125(7)
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Population, Aneuploidy, Chromosome Disorders, Audit, 03 medical and health sciences, 0302 clinical medicine, Fetus, Pregnancy, Surveys and Questionnaires, medicine, Humans, 030212 general & internal medicine, Genetic Testing, education, Genetic testing, Retrospective Studies, Chromosome Aberrations, education.field_of_study, Medical Audit, 030219 obstetrics & reproductive medicine, medicine.diagnostic_test, business.industry, Obstetrics, Obstetrics and Gynecology, Gestational age, medicine.disease, United Kingdom, Abortion, Spontaneous, Gestation, Female, Abnormality, business
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مصطلحات موضوعية: stomatognathic diseases, stomatognathic system, integumentary system, lichen planus, apoptosis, Fas/FasL, chemical and pharmacologic phenomena, skin and connective tissue diseases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::d0e1f4d45cac01ddd0ff061a02c5fb2a
https://www.bib.irb.hr/271413 -
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المؤلفون: I, Simonic, G S, Gericke, M, Lippert, J F, Schoeman
المصدر: American journal of medical genetics. 74(3)
مصطلحات موضوعية: Chromosome Aberrations, X Chromosome, Chromosome Fragile Sites, Chromosome Fragility, Matched-Pair Analysis, T-Lymphocytes, Trisomy, Aphidicolin, Chromosomes, Human, Pair 2, Karyotyping, Rett Syndrome, Humans, Female, Tourette Syndrome
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المؤلفون: I. Simonic, G. S. Gericke
المصدر: Human genetics. 97(4)
مصطلحات موضوعية: Zinc finger, Genetics, Male, Chromosomal fragile site, Chromosome Fragile Sites, Chromosome Fragility, Breakpoint, Chromosome, Methylation, Biology, Phenotype, CpG site, Karyotyping, Amniocyte, Chromosomes, Human, Humans, Female, Genetics (clinical), Tourette Syndrome
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المؤلفون: G S, Gericke, I, Simonic, E, Cloete, P J, Becker
المصدر: American journal of medical genetics. 67(1)
مصطلحات موضوعية: Adult, Male, Phenotype, Aphidicolin, Case-Control Studies, Chromosome Fragile Sites, Chromosome Fragility, Humans, Female, Comorbidity, Lymphocytes, Cells, Cultured, Tourette Syndrome
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10دورية أكاديمية
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تسجيل الدخول للوصول الكامل.