المؤلفون: Oates, Emily C., Jones, Kristi J., Donkervoort, Sandra, Charlton, Amanda, Brammah, Susan, Smith, John E., Ware, James S., Yau, Kyle S., Swanson, Lindsay C., Whiffin, Nicola, Peduto, Anthony J., Bournazos, Adam, Waddell, Leigh B., Farrar, Michelle A., Sampaio, Hugo A., Teoh, Hooi Ling, Lamont, Phillipa J., Mowat, David, Fitzsimons, Robin B., Corbett, Alastair J., Ryan, Monique M., O'Grady, Gina L., Sandaradura, Sarah A., Ghaoui, Roula, Joshi, Himanshu, Marshall, Jamie L., Nolan, Melinda A., Kaur, Simranpreet, Punetha, Jaya, Töpf, Ana, Harris, Elizabeth, Bakshi, Madhura, Genetti, Casie A., Marttila, Minttu, Werlauff, Ulla, Streichenberger, Nathalie, Pestronk, Alan, Mazanti, Ingrid, Pinner, Jason R., Vuillerot, Carole, Grosmann, Carla, Camacho, Ana, Mohassel, Payam, Leach, Meganne E., Foley, A. Reghan, Bharucha-Goebel, Diana, Collins, James, Connolly, Anne M., Gilbreath, Heather R., Iannaccone, Susan T., Castro, Diana, Cummings, Beryl B., Webster, Richard I., Lazaro, Leïla, Vissing, John, Coppens, Sandra, Deconinck, Nicolas, Luk, Ho Ming, Thomas, Neil H., Foulds, Nicola C., Illingworth, Marjorie A., Ellard, Sian, McLean, Catriona A., Phadke, Rahul, Ravenscroft, Gianina, Witting, Nanna, Hackman, Peter, Richard, Isabelle, Cooper, Sandra T., Kamsteeg, Erik Jan, Hoffman, Eric P., Bushby, Kate, Straub, Volker, Udd, Bjarne, Ferreiro, Ana, North, Kathryn N., Clarke, Nigel F., Lek, Monkol, Beggs, Alan H., Bönnemann, Carsten G., MacArthur, Daniel G., Granzier, Henk, Davis, Mark R., Laing, Nigel G.

المصدر: Annals of Neurology, 83, 6, pp. 1105-1124
Annals of Neurology, 83, 1105-1124
Oates, E C, Jones, K J, Donkervoort, S, Charlton, A, Brammah, S, Smith, J E, Ware, J S, Yau, K S, Swanson, L C, Whiffin, N, Peduto, A J, Bournazos, A, Waddell, L B, Farrar, M A, Sampaio, H A, Teoh, H L, Lamont, P J, Mowat, D, Fitzsimons, R B, Corbett, A J, Ryan, M M, O'Grady, G L, Sandaradura, S A, Ghaoui, R, Joshi, H, Marshall, J L, Nolan, M A, Kaur, S, Punetha, J, Töpf, A, Harris, E, Bakshi, M, Genetti, C A, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, J R, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, M E, Foley, A R, Bharucha-Goebel, D, Collins, J, Connolly, A M, Gilbreath, H R, Iannaccone, S T, Castro, D, Cummings, B B, Webster, R I, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H M, Thomas, N H, Foulds, N C, Illingworth, M A, Ellard, S, McLean, C A, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, S T, Kamsteeg, E J, Hoffman, E P, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, K N, Clarke, N F, Lek, M, Beggs, A H, Bönnemann, C G, MacArthur, D G, Granzier, H, Davis, M R & Laing, N G 2018, ' Congenital Titinopathy : Comprehensive characterization and pathogenic insights ', Annals of Neurology, vol. 83, no. 6, pp. 1105-1124 . https://doi.org/10.1002/ana.25241Test

مصطلحات موضوعية: Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8ad71b0f4b31ce3e824fff2aed5191ebTest
https://hdl.handle.net/2066/196367Test

المؤلفون: Ghaoui, Roula

مصطلحات موضوعية: muscular dystrophy, next generation sequencing, genetics, limb girdle, myopathy, whole exome sequencing

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=od_______293::624de7193c5539094cbd99cfa9a8c418Test
https://hdl.handle.net/2123/16358Test

المؤلفون: Roula Ghaoui, Thuong T. Ha, Jennifer Kerkhof, Haley McConkey, Song Gao, Milena Babic, Rob King, Gianina Ravenscroft, Barbara Koszyca, Sophia Otto, Nigel G. Laing, Hamish Scott, Bekim Sadikovic, Karin S. Kassahn

المساهمون: Ghaoui, Roula, Ha, Thuong T, Kerkhof, Jennifer, McConkey, Haley, Gao, Song, Babic, Milena, King, Rob, Ravenscroft, Gianina, Koszyca, Barbara, Otto, Sophia, Laing, Nigel G, Scott, Hamish, Sadikovic, Bekim, Kassahn, Karin S

المصدر: Neuromuscular Disorders. 33:484-489

مصطلحات موضوعية: Tatton-Brown-Rahman syndrome, Neurology, congenital myopathy, Pediatrics, Perinatology and Child Health, rhabdomyolysis, DNMT3A, DNA methylation studies, Neurology (clinical), hypotonia, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b860217063657c6b46b0ef7c4b513edcTest
https://doi.org/10.1016/j.nmd.2023.04.002Test