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1دورية أكاديمية
المؤلفون: Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J., Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R., Cooper, S. T.
مصطلحات موضوعية: Alternative Splicing, Arthrogryposis/*diagnosis/*genetics, Child, Preschool, Connectin/*genetics, Female, Genes, Recessive, Genetic Association Studies, Genetic Predisposition to Disease, Humans, Infant, Male, Muscular Diseases/*diagnosis/*genetics, Mutation, Pedigree, Phenotype, Radiography, TTN metatranscript-only, arthrogryposis, congenital titinopathies, intronic splice variant
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/31660661Test/; Bryen, S. J., Ewans, L. J., Pinner, J., MacLennan, S. C., Donkervoort, S., Castro, D., Töpf, A., O'Grady, G., Cummings, B., Chao, K. R., Weisburd, B., Francioli, L., Faiz, F., Bournazos, A. M., Hu, Y., Grosmann, C., Malicki, D. M., Doyle, H., Witting, N., Vissing, J., Claeys, K. G., Urankar, K., Beleza-Meireles, A., Baptista, J., Ellard, S., Savarese, M., Johari, M., Vihola, A., Udd, B., Majumdar, A., Straub, V., Bönnemann, C. G., MacArthur, D. G., Davis, M. R. and Cooper, S. T. (2020) 'Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy', Human Mutation, 41(2), pp. 403-411.; Human Mutation; PMC7306402; https://hdl.handle.net/11287/621948Test
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2دورية أكاديمية
المؤلفون: Whiffin, N. (Nicola), Karczewski, K. J. (Konrad J.), Zhang, X. (Xiaolei), Chothani, S. (Sonia), Smith, M. J. (Miriam J.), Evans, D. G. (D. Gareth), Roberts, A. M. (Angharad M.), Quaife, N. M. (Nicholas M.), Schafer, S. (Sebastian), Rackham, O. (Owen), Alfoldi, J. (Jessica), O'Donnell-Luria, A. H. (Anne H.), Francioli, L. C. (Laurent C.), Cook, S. A. (Stuart A.), Barton, P. J. (Paul J. R.), MacArthur, D. G. (Daniel G.), Ware, J. S. (James S.)
وصف الملف: application/pdf
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3دورية أكاديمية
المؤلفون: Finer, S., Martin, H. C., Khan, A., Hunt, K. A., MacLaughlin, B., Ahmed, Z., Ashcroft, R., Durham, C., MacArthur, D. G., McCarthy, M. I., Robson, J., Trivedi, B., Griffiths, C., Wright, J., Trembath, R. C., van Heel, D. A.
مصطلحات موضوعية: QH426 Genetics
وصف الملف: text
العلاقة: https://openaccess.city.ac.uk/id/eprint/23998/1/dyz174.pdfTest; Finer, S., Martin, H. C., Khan, A. , Hunt, K. A., MacLaughlin, B., Ahmed, Z., Ashcroft, R. https://openaccess.city.ac.uk/view/creators_id/richard=2Eashcroft.htmlTest orcid:0000-0001-6065-4717 orcid:0000-0001-6065-4717 , Durham, C., MacArthur, D. G., McCarthy, M. I., Robson, J., Trivedi, B., Griffiths, C., Wright, J., Trembath, R. C. van Heel, D. A.view all authorsEPJS_limit_names_shown_load( 'creators_name_23998_et_al', 'creators_name_23998_rest' ); (2019). Cohort Profile: East London Genes Health (ELGH), a community based population genomics and health study of British-Bangladeshi and British-Pakistani people. International Journal of Epidemiology, 49(1), 20-21I. doi:10.1101/426163 https://doi.org/10.1101/426163Test
الإتاحة: https://doi.org/10.1101/426163Test
https://openaccess.city.ac.uk/id/eprint/23998Test/
https://openaccess.city.ac.uk/id/eprint/23998/1/dyz174.pdfTest -
4
المؤلفون: Lappalainen, Tuuli, MacArthur, D. G.
المصدر: Science. 373(6562):1464-1468
مصطلحات موضوعية: Disease, Gene Expression Regulation, Genetic Diseases, Inborn, Genetic Predisposition to Disease, Genetic Techniques, Genetic Variation, Genome, Human, Genome-Wide Association Study, Genomics, Humans, Molecular Sequence Annotation, Multifactorial Inheritance, Phenotype, Quantitative Trait Loci
وصف الملف: print
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5دورية أكاديمية
المؤلفون: Houweling, P J, Berman, Y D, Turner, N, Quinlan, K G R, Seto, J T, Yang, N, Lek, M, Macarthur, D G, Cooney, G, North, K N
المصدر: International Journal of Obesity ; volume 41, issue 7, page 1154-1157 ; ISSN 0307-0565 1476-5497
مصطلحات موضوعية: Nutrition and Dietetics, Endocrinology, Diabetes and Metabolism, Medicine (miscellaneous)
الإتاحة: https://doi.org/10.1038/ijo.2017.72Test
http://www.nature.com/articles/ijo201772Test
http://www.nature.com/articles/ijo201772.pdfTest -
6دورية أكاديمية
المؤلفون: Rivas, M A, Graham, D, Sulem, P, Stevens, C, Desch, A N, Goyette, P, Gudbjartsson, D, Jonsdottir, I, Thorsteinsdottir, U, Degenhardt, F, Mucha, S, Kurki, M I, Li, D, D'Amato, M, Annese, V., Vermeire, S, Weersma, R K, Halfvarson, J., Paavola-Sakki, P, Lappalainen, M, Lek, M, Cummings, B, Tukiainen, T, Haritunians, T, Halme, L, Koskinen, L L E, Ananthakrishnan, A N, Luo, Y, Heap, Graham A., Visschedijk, M C, MacArthur, D G, Neale, B M, Ahmad, Tariq, Anderson, C A, Brant, S R, Duerr, R H, Silverberg, MS, Cho, J H, Palotie, A., Saavalainen, P, Kontula, K, Färkkilä, M, McGovern, D P B, Franke, A, Stefansson, K, Rioux, J D, Xavier, R J, Daly, M J, Barrett, J, de Lane, K, Edwards, C, Hart, A, Hawkey, C, Jostins, L, Kennedy, N, Lamb, C, Lee, J, Lees, C, Mansfield, J, Mathew, C, Mowatt, C, Newman, B, Nimmo, E, Parkes, M, Pollard, M, Prescott, N, Randall, J, Rice, D, Satsangi, J, Simmons, A, Tremelling, M, Uhlig, H, Wilson, D, Abraham, C., Achkar, J P, Bitton, A, Boucher, G, Croitoru, K, Fleshner, P, Glas, J, Kugathasan, S, Limbergen, J V, Milgrom, R, Proctor, D, Regueiro, M, Schumm, P L, Sharma, Y, Stempak, J M, Targan, S R, Wang, M H
مصطلحات موضوعية: Wessex Classification Subject Headings::Gastroenterology
وصف الملف: application/pdf
العلاقة: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/27503255Test/; A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis. 2016, 7:12342 Nat Commun; http://hdl.handle.net/11287/619885Test; Nature Communications
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7دورية أكاديمية
المؤلفون: MacArthur, D G, Manolio, T A, Dimmock, D P, Rehm, H L, Shendure, J, Abecasis, G R, Adams, D R, Altman, R B, Antonarakis, Stylianos, Ashley, E A, Barrett, J C, Biesecker, L G, Conrad, D F, Cooper, G M, Cox, N J, Daly, M J, Gerstein, M B, Goldstein, D B, Hirschhorn, J N, Leal, S M, Pennacchio, L A, Stamatoyannopoulos, J A, Sunyaev, S R, Valle, D, Voight, B F, Winckler, W, Gunter, C
المصدر: ISSN: 0028-0836 ; Nature, vol. 508, no. 7497 (2014) p. 469-476.
مصطلحات موضوعية: info:eu-repo/classification/ddc/576.5, Disease, False Positive Reactions, Genes/genetics, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Guidelines as Topic, Humans, Information Dissemination, Publishing, Reproducibility of Results, Research Design, Translational Medical Research/standards
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/24759409; https://archive-ouverte.unige.ch/unige:42274Test; unige:42274
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8دورية أكاديمية
المؤلفون: Robinson, E. B., Howrigan, D., Yang, J., Ripke, S., Anttila, V., Duncan, L. E., Jostins, L., Barrett, J. C., Medland, S. E., Macarthur, D. G., Breen, G., O'donovan, M. C., Wray, N. R., Devlin, B., Daly, M. J., Visscher, P. M., Sullivan, P. F., Neale, B. M.
المصدر: Robinson , E B , Howrigan , D , Yang , J , Ripke , S , Anttila , V , Duncan , L E , Jostins , L , Barrett , J C , Medland , S E , Macarthur , D G , Breen , G , O'donovan , M C , Wray , N R , Devlin , B , Daly , M J , Visscher , P M , Sullivan , P F & Neale , B M 2014 , ' Response to 'Predicting the diagnosis of autism spectrum disorder using gene pathway analysis' ' ....
الإتاحة: https://doi.org/10.1038/mp.2013.125Test
https://kclpure.kcl.ac.uk/portal/en/publications/1f0a3d5c-346f-489c-ae2c-2860c180b0ffTest
http://www.scopus.com/inward/record.url?scp=84905055662&partnerID=8YFLogxKTest -
9دورية أكاديمية
المؤلفون: MacArthur, D. G., Manolio, T. A., Dimmock, D. P., Rehm, H. L., Shendure, J., Abecasis, G. R., Adams, D. R., Altman, R. B., Antonarakis, S. E., Ashley, E. A., Barrett, J. C., Biesecker, L. G., Conrad, D. F., Cooper, G. M., Cox, N. J., Daly, M. J., Gerstein, M. B., Goldstein, D. B., Hirschhorn, J. N., Leal, S. M., Pennacchio, L. A., Stamatoyannopoulos, J. A., Sunyaev, S. R., Valle, D., Voight, B. F., Winckler, W., Gunter, C.
المصدر: Nature ; volume 508, issue 7497, page 469-476 ; ISSN 0028-0836 1476-4687
مصطلحات موضوعية: Multidisciplinary
الإتاحة: https://doi.org/10.1038/nature13127Test
http://www.nature.com/articles/nature13127.pdfTest
http://www.nature.com/articles/nature13127Test -
10دورية أكاديمية
المؤلفون: Bolduc V., Reghan Foley A., Solomon-Degefa H., Sarathy A., Donkervoort S., Hu Y., Chen G. S., Sizov K., Nalls M., Zhou H., Aguti S., Cummings B. B., Lek M., Tukiainen T., Marshall J. L., Regev O., Marek-Yagel D., Sarkozy A., Butterfield R. J., Jou C., Jimenez-Mallebrera C., Li Y., Gartioux C., Mamchaoui K., Allamand V., Gualandi F., Ferlini A., Hanssen E., Wilton S. D., Lamande S. R., MacArthur D. G., Wagener R., Muntoni F., Bonnemann C. G.
المساهمون: Bolduc, V., Reghan Foley, A., Solomon-Degefa, H., Sarathy, A., Donkervoort, S., Hu, Y., Chen, G. S., Sizov, K., Nalls, M., Zhou, H., Aguti, S., Cummings, B. B., Lek, M., Tukiainen, T., Marshall, J. L., Regev, O., Marek-Yagel, D., Sarkozy, A., Butterfield, R. J., Jou, C., Jimenez-Mallebrera, C., Li, Y., Gartioux, C., Mamchaoui, K., Allamand, V., Gualandi, F., Ferlini, A., Hanssen, E., Wilton, S. D., Lamande, S. R., Macarthur, D. G., Wagener, R., Muntoni, F., Bonnemann, C. G.
مصطلحات موضوعية: Collagen, Extracellular matrix, Muscle Biology, Neuromuscular disease, Therapeutics
وصف الملف: ELETTRONICO
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/30895940; info:eu-repo/semantics/altIdentifier/wos/WOS:000463372800008; volume:4; issue:6; firstpage:e124403-1; lastpage:e124403-19; numberofpages:19; journal:JCI INSIGHT; http://hdl.handle.net/11392/2408100Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85070661218; https://insight.jci.org/articles/view/124403/pdfTest; https://insight.jci.org/articles/view/124403Test
الإتاحة: https://doi.org/10.1172/jci.insight.124403Test
http://hdl.handle.net/11392/2408100Test
https://insight.jci.org/articles/view/124403/pdfTest
https://insight.jci.org/articles/view/124403Test
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