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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: K. Smith, G. Lowther, T. Hourihan, Tracy Ann Wilkinson, J. Wolstenholme, E. Maher
المصدر: Prenatal Diagnosis. 19:817-826
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Fetus, medicine.diagnostic_test, Obstetrics, Obstetrics and Gynecology, Aneuploidy, Chromosome, Chorionic villus sampling, Karyotype, Biology, medicine.disease, medicine, Amniocentesis, Trisomy, Confined placental mosaicism, Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::67e6a4b700f5c3eacea81dcb11c84567
https://doi.org/10.1002/(sici)1097-0223(199909)19:9<817::aid-pd647>3.0.co;2-8 -
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المؤلفون: A. Robb, G. Lowther, M.J.W. Faed, Patricia M. Ellis, D.A. Couzin, Andrew D. Carothers, E. Boyd
المصدر: Genetic Epidemiology. 16:179-190
مصطلحات موضوعية: Down syndrome, medicine.medical_specialty, Epidemiology, Obstetrics, Aneuploidy, Prenatal diagnosis, Biology, medicine.disease, Birth rate, In utero, medicine, Trisomy, Genetics (clinical), Sex ratio, Demography
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::fdc1091092e7e581da3f3711d31e8106
https://doi.org/10.1002/(sici)1098-2272(1999)16:2<179::aid-gepi5>3.0.co;2-7 -
5كتاب إلكتروني
المؤلفون: Kevin G. Lowther
نوع المادة: eBook.
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المؤلفون: Colgan J, J Watt, G Lowther, Morrison N, Selim Kurtoglu, Munis Dundar, Cetin Saatci, Zühal Candemir, Yusuf Ozkul
مصطلحات موضوعية: Genetics, business.industry, Waardenburg syndrome, Pediatrics, Perinatology and Child Health, Medicine, Chromosomal translocation, General Medicine, Anatomy, business, medicine.disease, Genetics (clinical), Reciprocal, Pathology and Forensic Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a55afc97d21e9caaa51d5f7953ade21b
https://avesis.erciyes.edu.tr/publication/details/bfcd78ef-1ccf-4c65-9f0c-6174f3076780/oai -
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المؤلفون: G. Lowther, J. I. Vaughan, G. E. Moore, M. L. Whiteford, L. Al-Roomi, John Tolmie, A. Mather, J. Coutts, A. Cooke
المصدر: Prenatal diagnosis. 15(6)
مصطلحات موضوعية: Adult, Heart Defects, Congenital, Pathology, medicine.medical_specialty, Aneuploidy, Chorionic villus sampling, Trisomy, Biology, Chromosome 16, Pregnancy, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Chromosome Aberrations, Fetal Growth Retardation, medicine.diagnostic_test, Mosaicism, Obstetrics and Gynecology, Trisomy 16, Karyotype, DNA, medicine.disease, Uniparental disomy, Uniparental Isodisomy, Scoliosis, Female, Chromosomes, Human, Pair 16
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8دورية أكاديمية
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المؤلفون: T L. Liparulo, J A. Hornsby, W G. Hornsby, Irma H. Ullrich, J S. White, J E. Parker, Rachel Yeater, C G. Lowther
المصدر: Medicine & Science in Sports & Exercise. 35:S183
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Internal medicine, Heart rate, Cardiology, Medicine, Physical Therapy, Sports Therapy and Rehabilitation, Orthopedics and Sports Medicine, business, Cycling, Incremental exercise
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::9bdce8e356c90cf1f2d88bae8840240c
https://doi.org/10.1097/00005768-200305001-01019 -
10دورية أكاديمية
لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.