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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
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2Academic Journal
المؤلفون: J.J. Johnston, I. Olivos-Glander, C. Killoran, E. Elson, J.T. Turner, K.F. Peters, M.H. Abbott, D.J. Aughton, A.S. Aylsworth, M.J. Bamshad, C. Booth, C.J. Curry, A. David, M.B. Dinulos, D.B. Flannery, M.A. Fox, J.M. Graham, D.K. Grange, A.E. Guttmacher, M.C. Hannibal, W. Henn, R.C.M. Hennekam, L.B. Holmes, H.E. Hoyme, K.A. Leppig, A.E. Lin, P. MacLeod, D.K. Manchester, C. Marcelis, L. Mazzanti, E. McCann, M.T. McDonald, N.J. Mendelsohn, J.B. Moeschler, B. Moghaddam, G. Neri, R. Newbury-Ecob, R.A. Pagon, J.A. Philips III, L.S. Sadler, J.M. Stoler, D. Tilstra, C.M. Walsh Vockley, E.H. Zackai, T.M. Zadeh, L. Brueton, G.C.M. Black, L.G. Biesecker
المصدر: American Journal of Human Genetics (00029297) vol.76 (2005) nr.4 p.609-622
Relation: http://hdl.handle.net/11245/1.251330
الاتاحة: http://hdl.handle.net/11245/1.251330
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المؤلفون: E. Weldon, R. Pryce, L. Brueton-Campbell, N. McDonald, M. Kulas
المصدر: CJEM. 22:S47-S47
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Emergency Medicine, Head neck, Physical therapy, Medicine, Observational study, Emergency department, business, Motion (physics)
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المؤلفون: S. Hill, J. Vogt, L. Brueton
المصدر: European Journal of Medical Genetics. 49:439-443
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Partial Trisomy, business.industry, Postnatal growth retardation, Genetics, Chromosome abnormality, Medicine, General Medicine, Early childhood, business, medicine.disease, Genetics (clinical)
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المؤلفون: C. Färber, ME Robertson, Klaus Wagner, Karin Buiting, Bernhard Horsthemke, L Brueton, C. Lich, Peter M. Kroisel
المصدر: Clinical Genetics. 58:284-290
مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Genetic counseling, nutritional and metabolic diseases, Biology, Genetic determinism, Germline, nervous system diseases, Chromosome 15, Germline mutation, Allele, Imprinting (psychology), Genomic imprinting, Genetics (clinical)
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المؤلفون: Anindya Lahiri, R. Lester, L. Brueton, A. Kansal
المصدر: Journal of Plastic, Reconstructive & Aesthetic Surgery. 60:440-442
مصطلحات موضوعية: Male, medicine.medical_specialty, Basal Cell Nevus Syndrome, Bifid rib, Frontal Bossing, medicine, Humans, Prognathism, Thumb hypoplasia, Polydactyly, business.industry, Macrocephaly, Infant, Anatomy, medicine.disease, Hypoplasia, Surgery, body regions, stomatognathic diseases, Treatment Outcome, Thumb, medicine.symptom, business
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المؤلفون: J. C. Y. Chan, L. Brueton, P. Young, David A. Somerset, Phillip Cox, N. Ostojic, Mark D. Kilby
المصدر: Prenatal Diagnosis. 25:612-614
مصطلحات موضوعية: medicine.medical_specialty, business.industry, Obstetrics, Obstetrics and Gynecology, Medicine, business, Genetics (clinical), Twin Twin Transfusion Syndrome
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المؤلفون: R. J. Gibbons, L. Brueton, V. J. Buckle, J. Burn, J. Clayton-Smith, B. C. C. Davison, R. J. M. Gardner, T. Homfray, L. Kearney, H. M. Kingston, R. Newbury-Ecob, M. E. P. Porteous, A. O. M. Wilkie, D. R. Higgs
المصدر: American Journal of Medical Genetics. 55:288-299
مصطلحات موضوعية: Male, Hemolytic anemia, Heterozygote, Pathology, medicine.medical_specialty, X Chromosome, Adolescent, Genetic Linkage, alpha-Thalassemia, Genetic linkage, Intellectual Disability, medicine, Humans, Abnormalities, Multiple, Sex organ, Child, Genetics (clinical), X chromosome, Erythrocyte Volume, Genetics, Hemoglobin H, business.industry, Infant, Heterozygote advantage, Syndrome, medicine.disease, Phenotype, Pedigree, Alpha-thalassemia mental retardation syndrome, Hemoglobinopathy, Child, Preschool, Female, business
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9Academic Journal
المؤلفون: V Laugel, C Dalloz, M Durand, F Sauvanaud, U Kristensen, M C Vincent, L Pasquier, S Odent, V Cormier-Daire, B Gener, E S Tobias, J L Tolmie, D Martin-Coignard, V Drouin-Garraud, D Heron, H Journel, E Raffo, J Vigneron, S Lyonnet, V Murday, D Gubser-Mercati, B Funalot, L Brueton, J Sanchez del Polo, E Muñoz, A R Gennery, M Salih, M Noruzina, K Prescott, L Ramos, Z Stark, K Fieggen, B Chabrol, P Sarda, P Edery, A Bloch-Zupan, F Fawcett, D Pham, J M Egly, Alan Lehmann, A Sarasin, H Dollfus
مصطلحات موضوعية: Uncategorised value
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المؤلفون: K, Buiting, C, Färber, P, Kroisel, K, Wagner, L, Brueton, M E, Robertson, C, Lich, B, Horsthemke
المصدر: Clinical genetics. 58(4)
مصطلحات موضوعية: Family Health, Male, Chromosomes, Human, Pair 15, Models, Genetic, DNA Mutational Analysis, Genetic Counseling, DNA Methylation, Polymerase Chain Reaction, Chromosome Banding, Pedigree, Blotting, Southern, Genomic Imprinting, Risk Factors, Child, Preschool, Karyotyping, Humans, Female, Child, Prader-Willi Syndrome, Alleles, Gene Deletion, Germ-Line Mutation, In Situ Hybridization, Fluorescence