المؤلفون: de Winter, JM, Molenaar, JP, Yuen, M, van der Pijl, R, Shen, S, Conijn, S, van de Locht, M, Willigenburg, M, Bogaards, SJP, van Kleef, ESB, Lassche, S, Persson, M, Rassier, DE, Sztal, TE, Ruparelia, AA, Oorschot, V, Ramm, G, Hall, TE, Xiong, Z, Johnson, CN, Li, F, Kiss, B, Lozano-Vidal, N, Boon, RA, Marabita, M, Nogara, L, Blaauw, B, Rodenburg, RJ, Kusters, B, Doorduin, J, Beggs, AH, Granzier, H, Campbell, K, Ma, W, Irving, T, Malfatti, E, Romero, NB, Bryson-Richardson, RJ, van Engelen, BGM, Voermans, NC, Ottenheijm, CAC

المصدر: The Journal of clinical investigation. 130(2):754-767

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:142959827

المؤلفون: Joureau, B, de Winter, JM, Conijn, S, Bogaards, SJP, Kovacevic, I, Kalganov, A, Persson, M, Lindqvist, J, Stienen, GJM, Irving, TC, Ma, WK, Yuen, M, Clarke, NF, Rassier, DE, Malfatti, E, Romero, NB, Beggs, AH, Ottenheijm, CAC

المصدر: Annals of neurology. 83(2):269-282

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:137682279

المؤلفون: Topf A, Cox D, Zaharieva IT, Di Leo V, Sarparanta J, Jonson PH, Sealy IM, Smolnikov A, White RJ, Vihola A, Savarese M, Merteroglu M, Wali N, Laricchia KM, Venturini C, Vroling B, Stenton SL, Cummings BB, Harris E, Marini-Bettolo C, Diaz-Manera J, Henderson M, Barresi R, Duff J, England EM, Patrick J, Al-Husayni S, Biancalana V, Beggs AH, Bodi I, Bommireddipalli S, Bonnemann CG, Cairns A, Chiew M-T, Claeys KG, Cooper ST, Davis MR, Donkervoort S, Erasmus CE, Fassad MR, Genetti CA, Grosmann C, Jungbluth H, Kamsteeg E-J, Lornage X, Loscher WN, Malfatti E, Manzur A, Marti P, Mongini TE, Muelas N, Nishikawa A, O'Donnell-Luria A, Ogonuki N, O'Grady GL, O'Heir E, Paquay S, Phadke R, Pletcher BA, Romero NB, Schouten M, Shah S, Smuts I, Sznajer Y, Tasca G, Taylor RW, Tuite A, Van den Bergh P, VanNoy G, Voermans NC, Wanschitz JV, Wraige E, Yoshimura K, Oates EC, Nakagawa O, Nishino I, Laporte J, Vilchez JJ, MacArthur DG, Sarkozy A, Cordell HJ, Udd B, Busch-Nentwich EM, Muntoni F, Straub V

المصدر: Nature Genetics, 2024

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/297372; https://eprints.ncl.ac.uk/fulltext.aspx?url=297372/129CEFBB-F9A4-41E1-B56F-2B14BF22C0DE.pdf&pub_id=297372

الاتاحة: https://eprints.ncl.ac.uk/297372

المؤلفون: Paul, Maimuna S, Michener, Sydney L, Pan, Hongling, Chan, Hiuling, Pfliger, Jessica M, Rosenfeld, Jill A, Lerma, Vanesa C, Tran, Alyssa, Longley, Megan A, Lewis, Richard A, Weisz-Hubshman, Monika, Bekheirnia, Mir Reza, Bekheirnia, Nasim, Massingham, Lauren, Zech, Michael, Wagner, Matias, Engels, Hartmut, Cremer, Kirsten, Mangold, Elisabeth, Peters, Sophia, Trautmann, Jessica, Mester, Jessica L, Guillen Sacoto, Maria J, Person, Richard, McDonnell, Pamela P, Cohen, Stacey R, Lusk, Laina, Cohen, Ana SA, Le Pichon, Jean-Baptiste, Pastinen, Tomi, Zhou, Dihong, Engleman, Kendra, Racine, Caroline, Faivre, Laurence, Moutton, Sébastien, Denommé-Pichon, Anne-Sophie, Koh, Hyun Yong, Poduri, Annapurna, Bolton, Jeffrey, Knopp, Cordula, Julia Suh, Dong Sun, Maier, Andrea, Toosi, Mehran B, Karimiani, Ehsan G, Maroofian, Reza, Schaefer, Gerald B, Ramakumaran, Vijayalakshmi, Vasudevan, Pradeep, Prasad, Chitra, Osmond, Matthew, Schuhmann, Sarah, Vasileiou, Georgia, Russ-Hall, Sophie, Scheffer, Ingrid E, Carvill, Gemma L, Mefford, Heather, Acosta, MT, Adam, M, Adams, DR, Alvarez, RL, Alvey, J, Amendola, L, Andrews, A, Ashley, EA, Bacino, CA, Bademci, G, Balasubramanyam, A, Baldridge, D, Bale, J, Bamshad, M, Barbouth, D, Bayrak-Toydemir, P, Beck, A, Beggs, AH, Behrens, E, Bejerano, G, Bellen, HJ, Bennett, J, Berg-Rood, B, Bernstein, JA, Berry, GT, Bican, A, Bivona, S, Blue, E, Bohnsack, J, Bonner, D, Botto, L, Boyd, B, Briere, LC, Brown, G, Burke, EA, Burrage, LC, Butte, MJ, Byers, P, Byrd, WE, Carey, J, Carrasquillo, O, Cassini, T, Chang, TCP, Chanprasert, S, Undiagnosed Diseases Network, .

المصدر: American Journal of Human Genetics , 111 (1) pp. 96-118. (2024)

مصطلحات موضوعية: neurodevelopmental disorder, synaptic protein, active zone protein, Mendelian phenotypes, fruit flies

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdf; https://discovery.ucl.ac.uk/id/eprint/10188776/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10188776/1/A%20syndromic%20neurodevelopmental%20disorder%20caused%20by%20rare%20variants%20in%20PPFIA3.pdf
https://discovery.ucl.ac.uk/id/eprint/10188776/

المؤلفون: Töpf, A, Cox, D, Zaharieva, IT, Di Leo, V, Sarparanta, J, Jonson, PH, Sealy, IM, Smolnikov, A, White, RJ, Vihola, A, Savarese, M, Merteroglu, M, Wali, N, Laricchia, KM, Venturini, C, Vroling, B, Stenton, SL, Cummings, BB, Harris, E, Marini-Bettolo, C, Diaz-Manera, J, Henderson, M, Barresi, R, Duff, J, England, EM, Patrick, J, Al-Husayni, S, Biancalana, V, Beggs, AH, Bodi, I, Bommireddipalli, S, Bönnemann, CG, Cairns, A, Chiew, M-T, Claeys, KG, Cooper, ST, Davis, MR, Donkervoort, S, Erasmus, CE, Fassad, MR, Genetti, CA, Grosmann, C, Jungbluth, H, Kamsteeg, E-J, Lornage, X, Löscher, WN, Malfatti, E, Manzur, A, Martí, P, Mongini, TE, Muelas, N, Nishikawa, A, O'Donnell-Luria, A, Ogonuki, N, O'Grady, GL, O'Heir, E, Paquay, S, Phadke, R, Pletcher, BA, Romero, NB, Schouten, M, Shah, S, Smuts, I, Sznajer, Y, Tasca, G, Taylor, RW, Tuite, A, Van den Bergh, P, VanNoy, G, Voermans, NC, Wanschitz, JV, Wraige, E, Yoshimura, K, Oates, EC, Nakagawa, O, Nishino, I, Laporte, J, Vilchez, JJ, MacArthur, DG, Sarkozy, A, Cordell, HJ, Udd, B, Busch-Nentwich, EM, Muntoni, F, Straub, V

مصطلحات موضوعية: Animals, Humans, Male, Connectin, Muscle, Skeletal, Muscular Diseases, Mutation, Zebrafish

وصف الملف: 395 - 407

Relation: Nat Genet; Töpf, A., Cox, D., Zaharieva, I.T. et al. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nat Genet 56, 395–407 (2024). https://doi.org/10.1038/s41588-023-01651-0; https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/96240
https://doi.org/10.1038/s41588-023-01651-0

المؤلفون: North, KN, Wang, CH, Clarke, N, Jungbluth, H, Vainzof, M, Dowling, JJ, Amburgey, K, Quijano-Roy, S, Beggs, AH, Sewry, C, Laing, NG, Bonnemann, CG

المصدر: Neuromuscular disorders : NMD. 24(2):97-116

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:128528931

المؤلفون: Shieh, PB, Kuntz, NL, Dowling, JJ, Müller-Felber, W, Bönnemann, CG, Seferian, AM, Servais, L, Smith, BK, Muntoni, F, Blaschek, A, Foley, AR, Saade, DN, Neuhaus, S, Alfano, LN, Beggs, AH, Buj-Bello, A, Childers, MK, Duong, T, Graham, RJ, Jain, M, Coats, J, MacBean, V, James, ES, Lee, J, Mavilio, F, Miller, W, Varfaj, F, Murtagh, M, Han, C, Noursalehi, M, Lawlor, MW, Prasad, S, Rico, S

وصف الملف: 1125 - 1139; Print-Electronic

Relation: The Lancet Neurology; ORCID iD: Vicky MacBean orcid:0000-0003-0268-2693; Shieh, P.B. et al. (2023) 'Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial', The Lancet Neurology, 22 (12), pp. 1125 - 1139. doi:10.1016/s1474-4422(23)00313-7.; https://bura.brunel.ac.uk/handle/2438/27683; https://doi.org/10.1016/s1474-4422(23)00313-7

الاتاحة: https://bura.brunel.ac.uk/handle/2438/27683
https://doi.org/10.1016/s1474-4422(23)00313-7

المؤلفون: Dowling, JJ, Müller-Felber, W, Smith, BK, Bönnemann, CG, Kuntz, NL, Muntoni, F, Servais, L, Alfano, LN, Beggs, AH, Bilder, DA, Blaschek, A, Duong, T, Graham, RJ, Jain, M, Lawlor, MW, Lee, J, Coats, J, Lilien, C, Lowes, LP, MacBean, V, Neuhaus, S, Noursalehi, M, Pitts, T, Finlay, C, Christensen, S, Rafferty, G, Seferian, AM, Tsuchiya, E, James, ES, Miller, W, Sepulveda, B, Vila, MC, Prasad, S, Rico, S, Shieh, PB

مصطلحات موضوعية: X-linked myotubular myopathy, centronuclear myopathy, neuromuscular diseases, respiratory failure, ventilators, mechanical, motor disorders

وصف الملف: 503 - 516 (14)

Relation: Journal of Neuromuscular Diseases; Trial registration number: NCT02704273; Dowling, J.J., Müller-Felber, W., Smith, B.K., Bönnemann, C.G., Kuntz, N.L., Muntoni, F., Servais, L., Alfano, L.N., Beggs, A.H., Bilder, D.A., Blaschek, A., Duong, T., Graham, R.J., Jain, M., Lawlor, M.W., Lee, J., Coats, J., Lilien, C., Lowes, L.P., MacBean, V., Neuhaus, S., Noursalehi, M., Pitts, T., Finlay, C., Christensen, S., Rafferty, G., Seferian, A.M., Tsuchiya, E., James, E.S., Miller, W., Sepulveda, B., Vila, M.C., Prasad, S., Rico, S. and Shieh, P.B. (2022) 'INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy', Journal of Neuromuscular Diseases, 9 (4), pp. 503 - 516 (14). doi:10.3233/jnd-210781.; https://bura.brunel.ac.uk/handle/2438/24793; https://doi.org/10.3233/jnd-210781

الاتاحة: https://bura.brunel.ac.uk/handle/2438/24793
https://doi.org/10.3233/jnd-210781

المؤلفون: Pellerin, D, Aykanat, A, Ellezam, B, Troiano, EC, Karamchandani, J, Dicaire, M, Petitclerc, M, Robertson, R, Allard-Chamard, X, Brunet, D, Konersman, CG, Mathieu, J, Warman Chardon, J, Gupta, VA, Beggs, AH, Brais, B, Chrestian, N

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 48, issue s3, page S14-S15 ; ISSN 0317-1671 2057-0155

الاتاحة: http://dx.doi.org/10.1017/cjn.2021.266
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167121002663

المؤلفون: Villar-Quiles, RN, Catervi, F, Cabet, E, Juntas-Morales, R, Genetti, CA, Gidaro, T, Koparir, A, Yüksel, A, Coppens, S, Deconinck, N, Pierce-Hoffman, E, Lornage, X, Durigneux, J, Laporte, J, Rendu, J, Romero, NB, Beggs, AH, Servais, LJP, Cossée, M, Olivé, M, Böhm, J, Duband-Goulet, I, Ferreiro, A

Relation: https://ora.ox.ac.uk/objects/uuid:88db6cd7-7628-48c3-b7e6-acd92f31f075; https://doi.org/10.1002/ana.25660

الاتاحة: https://doi.org/10.1002/ana.25660
https://ora.ox.ac.uk/objects/uuid:88db6cd7-7628-48c3-b7e6-acd92f31f075

المؤلفون: Silwal, A, Sarkozy, A, Scoto, M, Ridout, D, Schmidt, A, Laverty, A, Henriques, M, D'Argenzio, L, Main, M, Mein, R, Manzur, AY, Abel, F, Al-Ghamdi, F, Genetti, CA, Ardicli, D, Haliloglu, G, Topaloglu, H, Beggs, AH, Muntoni, F

المصدر: Annals of Clinical and Translational Neurology , 7 (11) pp. 2288-2296. (2020)

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdf; https://discovery.ucl.ac.uk/id/eprint/10112267/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10112267/1/acn3.51218.pdf
https://discovery.ucl.ac.uk/id/eprint/10112267/

المؤلفون: Graham, RJ, Muntoni, F, Hughes, I, Yum, SW, Kuntz, NL, Yang, ML, Byrne, BJ, Prasad, S, Alvarez, R, Genetti, CA, Haselkorn, T, James, ES, LaRusso, LB, Noursalehi, M, Rico, S, Beggs, AH

المصدر: Archives of Disease in Childhood (2019) (In press).

مصطلحات موضوعية: X-linked myotubular myopathy, centronuclear myopathy, congenital myopathy, mortality, respiratory support, retrospective chart review, tracheostomy

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10081270/1/archdischild-2019-317910.full.pdf; https://discovery.ucl.ac.uk/id/eprint/10081270/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10081270/1/archdischild-2019-317910.full.pdf
https://discovery.ucl.ac.uk/id/eprint/10081270/

المؤلفون: Bachmann, C, Noreen, F, Voermans, NC, Schar, PL, Vissing, J, Fock, JM, Bulk, S, Kusters, B, Moore, SA, Beggs, AH, Matthews, KD, Meyer, M, Genetti, CA, Meola, G, Cardani, R, Matthews, E, Jungluth, H, Muntoni, F, Zorzato, F, Treves, S

المصدر: Human Mutation , 40 (7) pp. 962-974. (2019)

مصطلحات موضوعية: congenital myopathies, epigenetics, excitation–contraction coupling, gene expression, ryanodine receptor

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdf; https://discovery.ucl.ac.uk/id/eprint/10071697/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10071697/3/Bachmann_SEPN1%20changes%20accepted_03.03.19.pdf
https://discovery.ucl.ac.uk/id/eprint/10071697/

المؤلفون: Johnson, BV, Kumar, R, Oishi, S, Alexander, S, Kasherman, M, Vega, MS, Ivancevic, A, Gardner, A, Domingo, D, Corbett, M, Parnell, E, Yoon, S, Oh, T, Lines, M, Lefroy, H, Kini, U, Van Allen, M, Grønborg, S, Mercier, S, Küry, S, Bézieau, S, Pasquier, L, Raynaud, M, Afenjar, A, Billette de Villemeur, T, Keren, B, Désir, J, Van Maldergem, L, Marangoni, M, Dikow, N, Koolen, DA, VanHasselt, PM, Weiss, M, Zwijnenburg, P, Sa, J, Reis, CF, López-Otín, C, Santiago-Fernández, O, Fernández-Jaén, A, Rauch, A, Steindl, K, Joset, P, Goldstein, A, Madan-Khetarpal, S, Infante, E, Zackai, E, Mcdougall, C, Narayanan, V, Ramsey, K, Mercimek-Andrews, S, Pena, L, Shashi, V, Schoch, K, Sullivan, JA, Acosta, MT, Adams, DR, Aday, A, Alejandro, ME, Allard, P, Ashley, EA, Azamian, MS, Bacino, CA, Bademci, G, Baker, E, Balasubramanyam, A, Baldridge, D, Barbouth, D, Batzli, GF, Beggs, AH, Bellen, HJ, Bernstein, JA, Berry, GT, Bican, A, Bick, DP, Birch, CL, Bivona, S, Bonnenmann, C, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brokamp, E, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Butte, MJ, Carrasquillo, O, Peter Chang, TC, Chao, HT, Clark, GD, Coakley, TR, Cobban, LA, Cogan, JD, Cole, FS, Colley, HA, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Wood, Stephen

مصطلحات موضوعية: Biological sciences, Biomedical and clinical sciences, Clinical sciences, Neurosciences, Psychology

Relation: Biological Psychiatry; Johnson, BV; Kumar, R; Oishi, S; Alexander, S; Kasherman, M; Vega, MS; Ivancevic, A; Gardner, A; Domingo, D; Corbett, M; Parnell, E; Yoon, S; Oh, T; Lines, M; Lefroy, H; Kini, U; Van Allen, M; Grønborg, S; Mercier, S; Küry, S; Bézieau, S; Pasquier, L; Raynaud, M; Afenjar, A; Billette de Villemeur, T; Keren, B; Désir, J; Van Maldergem, L; Marangoni, M; Dikow, N; Koolen, DA; VanHasselt, PM; Weiss, M; Zwijnenburg, P; Sa, J; Reis, CF; López-Otín, C; Santiago-Fernández, O; Fernández-Jaén, A; Rauch, A; Steindl, K; Joset, P; Goldstein, A; Madan-Khetarpal, S; Infante, E; Zackai, E; Mcdougall, C; Narayanan, V; Ramsey, K; Mercimek-Andrews, S; Pena, L; Shashi, V; Schoch, K; Sullivan, JA; Acosta, MT; Adams, DR; Aday, A; Alejandro, ME; Allard, P; Ashley, EA; Azamian, MS; Bacino, CA; Bademci, G; Baker, E; Balasubramanyam, A; Baldridge, D; Barbouth, D; Batzli, GF; Beggs, AH; Bellen, HJ; Bernstein, JA; Berry, GT; Bican, A; Bick, DP; Birch, CL; Bivona, S; Bonnenmann, C; Bonner, D; Boone, BE; Bostwick, BL; Briere, LC; Brokamp, E; Brown, DM; Brush, M; Burke, EA; Burrage, LC; Butte, MJ; Carrasquillo, O; Peter Chang, TC; Chao, HT; Clark, GD; Coakley, TR; Cobban, LA; Cogan, JD; Cole, FS; Colley, HA; Cooper, CM; Cope, H; Craigen, WJ; D'Souza, P, Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling, Biological Psychiatry, 2019; http://hdl.handle.net/10072/386708

الاتاحة: http://hdl.handle.net/10072/386708
https://doi.org/10.1016/j.biopsych.2019.05.028

المؤلفون: Pellerin, D, Aykanat, A, Ellezam, B, Karamchandani, J, Mathieu, J, Chardon, J Warman, Konersman, CG, Beggs, AH, Brais, B, Chrestian, N

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 46, issue s1, page S21 ; ISSN 0317-1671 2057-0155

الاتاحة: http://dx.doi.org/10.1017/cjn.2019.128
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167119001288

المؤلفون: Oates, EC, Jones, KJ, Donkervoort, S, Charlton, A, Brammah, S, Smith, JE, Ware, JS, Yau, KS, Swanson, LC, Whiffin, N, Peduto, AJ, Bournazos, A, Waddell, LB, Farrar, MA, Sampaio, HA, Teoh, HL, Lamont, PJ, Mowat, D, Fitzsimons, RB, Corbett, AJ, Ryan, MM, O'Grady, GL, Sandaradura, SA, Ghaoui, R, Joshi, H, Marshall, JL, Nolan, MA, Kaur, S, Punetha, J, Toepf, A, Harris, E, Bakshi, M, Genetti, CA, Marttila, M, Werlauff, U, Streichenberger, N, Pestronk, A, Mazanti, I, Pinner, JR, Vuillerot, C, Grosmann, C, Camacho, A, Mohassel, P, Leach, ME, Foley, AR, Bharucha-Goebel, D, Collins, J, Connolly, AM, Gilbreath, HR, Iannaccone, ST, Castro, D, Cummings, BB, Webster, RI, Lazaro, L, Vissing, J, Coppens, S, Deconinck, N, Luk, H-M, Thomas, NH, Foulds, NC, Illingworth, MA, Ellard, S, McLean, CA, Phadke, R, Ravenscroft, G, Witting, N, Hackman, P, Richard, I, Cooper, ST, Kamsteeg, E-J, Hoffman, EP, Bushby, K, Straub, V, Udd, B, Ferreiro, A, North, KN, Clarke, NF, Lek, M, Beggs, AH, Boennemann, CG, MacArthur, DG, Granzier, H, Davis, MR, Laing, NG

Relation: 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. ,. Laing, N. G. (2018). Congenital Titinopathy: Comprehensive characterization and pathogenic insights. ANNALS OF NEUROLOGY, 83 (6), pp.1105-1124. https://doi.org/10.1002/ana.25241.; http://hdl.handle.net/11343/254896

الاتاحة: http://hdl.handle.net/11343/254896

المؤلفون: Brownstein, CA, Beggs, AH, Homer, N, Merriman, B, Yu, TW, Flannery, KC, DeChene, ET, Towne, MC, Savage, SK, Price, EN, Holm, IA, Luquette, LJ, Lyon, E, Majzoub, J, Neupert, P, McCallie, D, Szolovits, P, Willard, HF, Mendelsohn, NJ, Temme, R, Finkel, RS, Yum, SW, Medne, L, Sunyaev, SR, Adzhubey, I, Cassa, CA, de Bakker, PIW, Duzkale, H, Dworzynski, P, Fairbrother, W, Francioli, L, Funke, BH, Giovanni, MA, Handsaker, RE, Lage, K, Lebo, MS, Lek, M, Leshchiner, I, MacArthur, DG, McLaughlin, HM, Murray, MF, Pers, TH, Polak, PP, Raychaudhuri, S, Rehm, HL, Soemedi, R, Stitziel, NO, Vestecka, S, Supper, J, Gugenmus, C, Klocke, B, Hahn, A, Schubach, M, Menzel, M, Biskup, S, Freisinger, P, Deng, M, Braun, M, Perner, S, Smith, RJH, Andorf, JL, Huang, J, Ryckman, K, Sheffield, VC, Stone, EM, Bair, T, Black-Ziegelbein, EA, Braun, TA, Darbro, B, DeLuca, AP, Kolbe, DL, Scheetz, TE, Shearer, AE, Sompallae, R, Wang, K, Bassuk, AG, Edens, E, Mathews, K, Moore, SA, Shchelochkov, OA, Trapane, P, Bossler, A, Campbell, CA, Heusel, JW, Kwitek, A, Maga, T, Panzer, K, Wassink, T, Van Daele, D, Azaiez, H, Booth, K, Meyer, N, Segal, MM, Williams, MS, Tromp, G, White, P, Corsmeier, D, Fitzgerald-Butt, S, Herman, G, Lamb-Thrush, D, McBride, KL, Newsom, D, Pierson, CR, Rakowsky, AT, Maver, A, Lovrecic, L, Palandacic, A, Peterlin, B, Torkamani, A, Wedell, A, Huss, M, Alexeyenko, A, Lindvall, JM, Magnusson, M, Nilsson, D, Stranneheim, H, Taylan, F, Gilissen, C, Hoischen, A, van Bon, B, Yntema, H, Nelen, M, Zhang, WD, Sager, J, Zhang, L, Blair, K, Kural, D, Cariaso, M, Lennon, GG, Javed, A, Agrawal, S, Ng, PC, Sandhu, KS, Krishna, S, Veeramachaneni, V, Isakov, O, Halperin, E, Friedman, E, Shomron, N, Glusman, G, Roach, JC, Caballero, J, Cox, HC, Mauldin, D, Ament, SA, Rowen, L, Richards, DR, San Lucas, FA, Gonzalez-Garay, ML, Caskey, CT, Bai, Y, Huang, Y, Fang, F, Zhang, Y, Wang, ZY, Barrera, J, Garcia-Lobo, JM, Gonzalez-Lamuno, D, Llorca, J, Rodriguez, MC, Varela, I, Reese, MG, De la Vega, FM, Kiruluta, E, Cargill, M, Hart, RK, Sorenson, JM, Lyon, GJ, Stevenson, DA, Bray, BE, Moore, BM, Eilbeck, K, Yandell, M, Zhao, HY, Hou, L, Chen, XW, Yan, XT, Chen, MJ, Li, C, Yang, C, Gunel, M, Li, PN, Kong, Y, Alexander, AC, Albertyn, ZI, Boycott, KM, Bulman, DE, Gordon, PMK, Innes, AM, Knoppers, BM, Majewski, J, Marshall, CR, Parboosingh, JS, Sawyer, SL, Samuels, ME, Schwartzentruber, J, Kohane, IS, Margulies, DM

المصدر: Genome biology. 15(3):R53

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:129420736

المؤلفون: Cummings, BB, Marshall, JL, Tukiainen, T, Lek, M, Donkervoort, S, Foley, AR, Bolduc, V, Waddell, LB, Sandaradura, SA, O'Grady, GL, Estrella, E, Reddy, HM, Zhao, F, Weisburd, B, Karczewski, KJ, O'Donnell-Luria, AH, Birnbaum, D, Sarkozy, A, Hu, Y, Gonorazky, H, Claeys, K, Joshi, H, Bournazos, A, Oates, EC, Ghaoui, R, Davis, MR, Laing, NG, Topf, A, Kang, PB, Beggs, AH, North, KN, Straub, V, Dowling, JJ, Muntoni, F, Clarke, NF, Cooper, ST, Bonnemann, CG, MacArthur, DG

المصدر: Science Translational Medicine , 9 (386) (2017)

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Cell Biology, Medicine, Research & Experimental, Research & Experimental Medicine, NEUROMUSCULAR DISEASES, MUSCULAR-DYSTROPHIES, SPLICING SIGNALS, ENHANCERS ESES, RNA-SEQ, VARIANTS, MUTATIONS, OPPORTUNITIES, CHALLENGES, PREDICTION

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10055859/1/nihms884236.pdf; https://discovery.ucl.ac.uk/id/eprint/10055859/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10055859/1/nihms884236.pdf
https://discovery.ucl.ac.uk/id/eprint/10055859/

المؤلفون: Pellerin, D, Aykanat, A, Ellezam, B, Troiano, EC, Karamchandani, J, Dicaire, M, Petitclerc, M, Robertson, R, Allard-Chamard, X, Brunet, D, Konersman, CG, Mathieu, J, Warman Chardon, J, Gupta, VA, Beggs, AH, Brais, B, Chrestian, N

المصدر: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques ; volume 49, issue s1, page S3-S3 ; ISSN 0317-1671 2057-0155

الاتاحة: http://dx.doi.org/10.1017/cjn.2022.93
https://www.cambridge.org/core/services/aop-cambridge-core/content/view/S0317167122000932

المؤلفون: Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, YH, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, M T, McLaughlin, H, Piera, MR, Orellana, C, Martinez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasseit, PM, Hofstede, FC, van Gassen, K L I, Brooks, Alice, van Slegtenhorst, Marjon, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Campeau, PM, Adams, DR, Alejandro, ME, Allard, P, Azamian, MS, Bacino, CA, Balasubramanyam, A, Barseghyan, H, Batzli, GF, Beggs, AH, Behnam, B, Bican, A, Bick, DP, Birch, CL, Bonner, D, Boone, BE, Bostwick, BL, Briere, LC, Brown, DM, Brush, M, Burke, EA, Burrage, LC, Chen, S, Clark, GD, Coakley, TR, Cogan, JD, Cooper, CM, Cope, H, Craigen, WJ, D'Souza, P, Davids, M, Dayal, JG, Dell'Angelica, EC, Dhar, SU, Dillon, A, Dipple, KM, Donnell-Fink, LA, Dorrani, N, Dorset, DC, Douine, ED, Draper, DD, Eckstein, DJ, Emrick, LT, Eng, CM, Eskin, A, Esteves, C, Estwick, T, Ferreira, C, Fogel, BL, Friedman, ND, Gahl, WA, Glanton, E, Godfrey, RA, Goldstein, DB, Gould, SE, Gourdine, JPF, Groden, CA, Gropman, AL, Haendel, M, Hamid, R, Hanchard, NA, Handley, LH, Herzog, MR, Holm, IA, Hom, J, Howerton, EM, Huang, Y, Jacob, HJ, Jain, M, Johnston, JM, Jones, AL, Kohane, IS, Krasnewich, DM, Krieg, EL, Krier, JB, Lalani, SR, Lalani, Lau, CC, Lazar, J, Lee, H, Levy, SE, Lewis, RA, Lincoln, SA, Lipson, A, Loo, SK, Loscalzo, J, Maas, RL, Macnamara, EF, MacRae, CA, Maduro, VV, Majcherska, MM, Malicdan, MCV, Mamounas, LA, Manolio, TA, Markello, TC, Marom, R, Martinez-Agosto, JA, Marwaha, S, May, T, McConkie-Rosell, A, McCormack, CE, McCray, AT, Might, M, Moretti, PM, Morimoto, M, Mulvihill, JJ, Murphy, JL, Muzny, DM, Nehrebecky, ME, Nelson, SF, Newberry, JS, Newman, JH, Nicholas, SK, Novacic, D, Orange, JS, Pallais, JC, Palmer, CGS, Papp, JC, Parker, NH, Pena, LDM, Phillips, JA, Posey, JE, Postlethwait, JH, Potocki, L, Pusey, BN, Reuter, CM, Robertson, AK, Rodan, LH, Sampson, JB, Samson, SL, Schoch, K, Schroeder, MC, Scott, DA, Sharma, P, Signer, R, Silverman, EK, Sinsheimer, JS, Smith, KS, Splinter, K, Stoler, JM, Sweetser, DA, Tifft, CJ, Toro, C, Tran, AA, Urv, TK, Valivullah, ZM, Vilain, E, Vogel, TP, Wahl, CE, Walley, NM, Walsh, CA, Ward, PA, Waters, KM, Westerfield, M, Wise, AL, Wolfe, LA, Worthey, EA, Yamamoto, S, Yang, YP, Yu, GY, Zastrow, DB, Zheng, A

المصدر: Machol , K , Rousseau , J , Ehresmann , S , Garcia , T , Nguyen , TTM , Spillmann , RC , Sullivan , JA , Shashi , V , Jiang , YH , Stong , N , Fiala , E , Willing , M , Pfundt , R , Kleefstra , T , Cho , M T , McLaughlin , H , Piera , MR , Orellana , C , Martinez , F , Caro-Llopis , A , Monfort , S , Roscioli , T , Nixon , CY , Buckley , MF , Turner , ....

مصطلحات موضوعية: /dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01, name=EMC OR-01

الاتاحة: https://pure.eur.nl/en/publications/a9dc94a9-e8cc-40fb-b674-06d6783c3f8f
https://doi.org/10.1016/j.ajhg.2018.11.007