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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 -
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المؤلفون: Oluwakemi Lokulo-Sodipe, Diana S Brightman, Mackay Djg, Searle B, I.K. Temple, Andrew Dauber, Justin H Davies
المصدر: Yearbook of Paediatric Endocrinology.
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, business.industry, Internal medicine, Medicine, In patient, Temple Syndrome, Short term growth, Growth hormone, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::248f52e55ec852e16de3992ad0bf8d55
https://doi.org/10.1530/ey.16.4.1 -
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المؤلفون: S. Naik, Nicholas Stuart Tudor Thomas, Diana Baralle, Margaret Lever, A. Caliebe, I.K. Temple, Justin H Davies, Michela Raponi
المصدر: Molecular Syndromology. 2:76-80
مصطلحات موضوعية: Genetics, Mutation, Short Report, Chromosomal translocation, Biology, Bioinformatics, medicine.disease_cause, Exon, Chromosome 15, Gene duplication, medicine, Tandem exon duplication, Gene, Genetics (clinical), SNRPN Gene
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المؤلفون: I.K. Temple, H. Rafferty, P. Hodgkins, Nicola Foulds, Andrew G. L. Douglas, M. Morgan, A. Nagra
المصدر: Molecular Syndromology. 1:82-86
مصطلحات موضوعية: Fetus, Pathology, medicine.medical_specialty, business.industry, Renal vein thrombosis, medicine.disease, Microphthalmia, Persistent hyperplastic primary vitreous, Protein C deficiency, Genetics, medicine, Original Article, business, Persistent fetal vasculature, Genetics (clinical), Protein C, medicine.drug, Purpura fulminans
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fed73c70af775da48a346c1287babb79
https://doi.org/10.1159/000302372 -
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المؤلفون: A.R. Ismail, P.R. Hodgkins, Andrew D Mumford, Katherine Lachlan, I.K. Temple
المصدر: European Journal of Ophthalmology. 16:153-160
مصطلحات موضوعية: Adult, Proband, Pathology, medicine.medical_specialty, Adolescent, DNA Mutational Analysis, Physiology, medicine.disease_cause, Cataract, Hereditary hyperferritinemia-cataract syndrome, 03 medical and health sciences, 0302 clinical medicine, Cataracts, Humans, Medicine, RNA, Messenger, Gene, Serum ferritin, Genetic testing, Mutation, medicine.diagnostic_test, business.industry, Transferrin saturation, Infant, Iron-Regulatory Proteins, Eye Diseases, Hereditary, Syndrome, General Medicine, Middle Aged, medicine.disease, Iron Metabolism Disorders, eye diseases, Pedigree, Ophthalmology, Child, Preschool, Ferritins, 030221 ophthalmology & optometry, Female, business, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d6eca97f877df7e2249eb2fbd3c9921
https://doi.org/10.1177/112067210601600125 -
10دورية أكاديمية
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