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المؤلفون: Fitzgerald, T.W., Gerety, S.S., Jones, W.D., van Kogelenberg, M., King, D.A., McRae, J., Morley, K.I., Parthiban, V., Al-Turki, S., Ambridge, K., Barrett, D.M., Bayzetinova, T., Clayton, S., Coomber, E.L., Gribble, S., Jones, P., Krishnappa, N., Mason, L.E., Middleton, A., Miller, R., Prigmore, E., Rajan, D., Sifrim, A., Tivey, A.R., Ahmed, M., Akawi, N., Andrews, R., Anjum, U., Archer, H., Armstrong, R., Balasubramanian, M., Banerjee, R., Baralle, D., Batstone, P., Baty, D., Bennett, C., Berg, J., Bernhard, B., Bevan, A.P., Blair, E., Blyth, M., Bohanna, D., Bourdon, L., Bourn, D., Brady, A., Bragin, E., Brewer, C., Brueton, L., Brunstrom, K., Bumpstead, S.J., Bunyan, D.J., Burn, J., Burton, J., Canham, N., Castle, B., Chandler, K., Clasper, S., Clayton-Smith, J., Cole, T., Collins, A., Collinson, M.N., Connell, F., Cooper, N., Cox, H., Cresswell, L., Cross, G., Crow, Y., D'Alessandro, M., Dabir, T., Davidson, R., Davies, S., Dean, J., Deshpande, C., Devlin, G., Dixit, A., Dominiczak, A., Donnelly, C., Donnelly, D., Douglas, A., Duncan, A., Eason, J., Edkins, S., Ellard, S., Ellis, P., Elmslie, F., Evans, K., Everest, S., Fendick, T., Fisher, R., Flinter, F., Foulds, N., Fryer, A., Fu, B., Gardiner, C., Gaunt, L., Ghali, N., Gibbons, R., Pereira, S.L.G., Goodship, J., Goudie, D., Gray, E., Greene, P., Greenhalgh, L., Harrison, L., Hawkins, R., Hellens, S., Henderson, A., Hobson, E., Holden, S., Holder, S., Hollingsworth, G., Homfray, T., Humphreys, M., Hurst, J., Ingram, S., Irving, M., Jarvis, J., Jenkins, L., Johnson, D., Jones, D., Jones, E., Josifova, D., Joss, S., Kaemba, B., Kazembe, S., Kerr, B., Kini, U., Kinning, E., Kirby, G., Kirk, C., Kivuva, E., Kraus, A., Kumar, D., Lachlan, K., Lam, W., Lampe, A., Langman, C., Lees, M., Lim, D., Lowther, G., Lynch, S.A., Magee, A., Maher, E., Mansour, S., Marks, K., Martin, K., Maye, U., McCann, E., McConnell, V., McEntagart, M., McGowan, R., McKay, K., McKee, S., McMullan, D.J., McNerlan, S., Mehta, S., Metcalfe, K., Miles, E., Mohammed, S., Montgomery, T., Moore, D., Morgan, S., Morris, A., Morton, J., Mugalaasi, H., Murday, V., Nevitt, L., Newbury-Ecob, R., Norman, A., O'Shea, R., Ogilvie, C., Park, S., Parker, M.J., Patel, C., Paterson, J., Payne, S., Phipps, J., Pilz, D.T., Porteous, D., Pratt, N., Prescott, K., Price, S., Pridham, A., Procter, A., Purnell, H., Ragge, N., Rankin, J., Raymond, L., Rice, D., Robert, L., Roberts, E., Roberts, G., Roberts, J., Roberts, P., Ross, A., Rosser, E., Saggar, A., Samant, S., Sandford, R., Sarkar, A., Schweier, S., Scott, C., Scott, R., Selby, A., Seller, A., Sequeira, C., Shannon, N., Shanrif, S., Shaw-Smith, C., Shearing, E., Shears, D., Simonic, I., Simpkin, D., Singzon, R., Skitt, Z., Smith, A., Smith, B., Smith, K., Smithson, S., Sneddon, L., Splitt, M., Squires, M., Stewart, F., Stewart, H., Suri, M., Sutton, V., Swaminathan, G.J., Sweeney, E., Tatton-Brown, K., Taylor, C., Taylor, R., Tein, M., Temple, I.K., Thomson, J., Tolmie, J., Torokwa, A., Treacy, B., Turner, C., Turnpenny, P., Tysoe, C., Vandersteen, A., Vasudevan, P., Vogt, J., Wakeling, E., Walker, D., Waters, J., Weber, A., Wellesley, D., Whiteford, M., Widaa, S., Wilcox, S., Williams, D., Williams, N., Woods, G., Wragg, C., Wright, M., Yang, F., Yau, M., Carter, N.P., Parker, M., Firth, H.V., FitzPatrick, D.R., Wright, C.F., Barrett, J.C., Hurles, M.E., The Deciphering Developmental Disorders Study, .
المصدر: Nature
مصطلحات موضوعية: Male, Parents, Chromosomal Proteins, Non-Histone, Developmental Disabilities, Transposases, SYNGAP1, medicine.disease_cause, Bioinformatics, DEAD-box RNA Helicases, 0302 clinical medicine, Guanine Nucleotide Exchange Factors, Missense mutation, Exome, Protein Phosphatase 2, Child, Dynamin I, Zebrafish, Exome sequencing, Genes, Dominant, Polycomb Repressive Complex 1, 0303 health sciences, Mutation, Multidisciplinary, Gene Expression Regulation, Developmental, Nuclear Proteins, DNA-Binding Proteins, Child, Preschool, Female, Adolescent, Mutation, Missense, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Biology, Article, 03 medical and health sciences, Rare Diseases, medicine, Animals, Humans, 030304 developmental biology, Chromosome Aberrations, Homeodomain Proteins, Genome, Human, Mechanism (biology), Infant, Newborn, Infant, Phosphoproteins, United Kingdom, Human genetics, Repressor Proteins, Human genome, Carrier Proteins, 030217 neurology & neurosurgery, Transcription Factors
وصف الملف: application/pdf; text
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4849ed517dde51d5c721a6a7dd24d51cTest
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المؤلفون: Allen, H.L., Flanagan, S.E., Shaw-Smith, C., Franco, E. De, Akerman, I., Caswell, R., Ferrer, J., Hattersley, A.T., Ellard, S., Aanstoot, H.J., Aberg, E., Adolfsson, P., Anthony, M., Batlle, M., Bruining, J, Bühr, P., Cummings, E., Edge, J., Garcia-Hurtado, J., Hathout, E., Ho, J., Jeffries, C., Temple, I.K., Kaufman, E., Kotori, V.M., Krijger, R. de, Kummer, M., Mackay, D., Mace, J., Noordam, C., O'Brien, F., Rubio-Cabezas, O., Shield, J., Skidmore, D., White, S., Zanier, U.
المصدر: Nature Genetics, 44, 1, pp. 20-2
Nature Genetics, 44, 20-2مصطلحات موضوعية: endocrine system, 030209 endocrinology & metabolism, Haploinsufficiency, Biology, Bioinformatics, Article, 03 medical and health sciences, 0302 clinical medicine, GATA6 Transcription Factor, Rare mutations, Genetics, medicine, Humans, Pancreas, Transcription factor, 030304 developmental biology, 0303 health sciences, GATA6, Pancreatic agenesis, Phenotype, 3. Good health, medicine.anatomical_structure, Mitochondrial medicine [IGMD 8], PDX1
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18f989bd681a94526bb868738e69f57eTest
https://doi.org/10.1038/ng.1035Test