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1دورية أكاديمية
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2
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 -
3دورية أكاديمية
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4دورية أكاديمية
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5
المؤلفون: Pierpaolo Ala, Miroslav P. Milev, Shinsuke Maruyama, Adnan Y. Manzur, D. Chambers, Nadine McCrea, Pinki Munot, Michael Sacher, Rahul Phadke, Wen-Chen Liang, Phil Cox, Lucy Feng, Helen Roper, Francesco Muntoni, Caroline Sewry, Ichizo Nishino, Irina Zaharieva, Tamas Marton, N Ragge, Silvia Torelli
المصدر: BASE-Bielefeld Academic Search Engine
مصطلحات موضوعية: Male, Cerebellum, Pathology, medicine.medical_specialty, Histology, Glycosylation, Vesicular Transport Proteins, Neuropathology, Muscular Dystrophies, Pathology and Forensic Medicine, 03 medical and health sciences, 0302 clinical medicine, Physiology (medical), medicine, Dystroglycan, Humans, Muscular dystrophy, Dystroglycans, Muscle, Skeletal, 030304 developmental biology, 0303 health sciences, biology, business.industry, Dystrophy, Skeletal muscle, Muscle weakness, Brain, Infant, medicine.disease, medicine.anatomical_structure, Neurology, Liver, Child, Preschool, Mutation, biology.protein, Cerebellar atrophy, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14ad39104e58b2b52877ee6b43f6b38a
https://doi.org/10.21203/rs.3.rs-31937/v1 -
6دورية أكاديمية
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7دورية أكاديمية
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المؤلفون: P. Munot, N. McCrea, S. Torelli, A. Manzur, C. Sewry, D. Chambers, L. Feng, P. Ala, I. Zaharieva, N. Ragge, H. Roper, T. Marton, P. Cox, M. Milev, M. Sacher, W. Liang, S. Maruyama, I. Nishino, R. Phadke, F. Muntoni
المصدر: Neuromuscular Disorders. 30:S105
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
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9دورية أكاديمية
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المؤلفون: N, Chassaing, N, Ragge, A, Kariminejad, A, Buffet, S, Ghaderi-Sohi, J, Martinovic, P, Calvas
المصدر: Clinical genetics. 83(3)
مصطلحات موضوعية: Family Health, Heterozygote, Base Sequence, DNA Mutational Analysis, Homozygote, Molecular Sequence Data, Mutation, Missense, Anophthalmos, Membrane Proteins, Polymerase Chain Reaction, Mutation, Humans, Microphthalmos, RNA Splice Sites, Sequence Deletion