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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: 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, Ltd (Australia). Frontier Genomics has not traded (as of October, 2019). Frontier, Genomics Pty Ltd (Australia) has no existing financial relationships that will, benefit from publication of these data. The remaining co-authors do not have any, relationships, financial or otherwise, that may result in a perceived conflict of, interest
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.; https://rde.dspace-express.com/handle/11287/621948Test; Human Mutation; PMC7306402
الإتاحة: https://doi.org/10.1002/humu.23938Test
https://rde.dspace-express.com/handle/11287/621948Test
