المؤلفون: Brown, E, Clarke, R, Abbs, S, Mitchell, P, Zhu, L, Ridd, M, Hay, A, Yardley, L

المصدر: JAC-Antimicrobial Resistance ; volume 7, issue Supplement_1 ; ISSN 2632-1823

الاتاحة: https://doi.org/10.1093/jacamr/dlae217.011
https://academic.oup.com/jacamr/article-pdf/7/Supplement_1/dlae217.011/61586046/dlae217.011.pdf

المؤلفون: Abbs, S, Tuffery-Giraud, S, Bakker, E, Ferlini, A, Sejersen, T, Mueller, CR

المصدر: Neuromuscular disorders : NMD. 20(6):422-7

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:220466545

المؤلفون: Martin HC, Gardner EJ, Samocha KE, Kaplanis J, Akawi N, Sifrim A, Eberhardt RY, Tavares ALT, Neville MDC, Niemi MEK, Gallone G, McRae J, Borras S, Clark C, Dean J, Miedzybrodzka Z, Ross A, Tennant S, Dabir T, Donnelly D, Humphreys M, Magee A, McConnell V, McKee S, McNerlan S, Morrison PJ, Rea G, Stewart F, Cole T, Cooper N, Cooper-Charles L, Cox H, Islam L, Jarvis J, Keelagher R, Lim D, McMullan D, Morton J, Naik S, O'Driscoll M, Ong K-R, Osio D, Ragge N, Turton S, Vogt J, Williams D, Bodek S, Donaldson A, Hills A, Low K, Newbury-Ecob R, Norman AM, Roberts E, Scurr I, Smithson S, Tooley M, Abbs S, Armstrong R, Dunn C, Holden S, Park S-M, Paterson J, Raymond L, Reid E, Sandford R, Simonic I, Tischkowitz M, Woods G, Bradley L, Comerford J, Green A, Lynch S, McQuaid S, Mullaney B, Berg J, Goudie D, Mavrak E, McLean J, McWilliam C, Reavey E, Azam T, Cleary E, Jackson A, Lam W, Lampe A, Moore D, Porteous M, Baple E, Baptista J, Brewer C, Castle B, Kivuva E, Owens M, Rankin J, Shaw-Smith C, Turner C, Turnpenny P, Tysoe C, Bradley T, Davidson R, Gardiner C, Joss S, Kinning E, Longman C, McGowan R, Murday V, Pilz D, Tobias E, Whiteford M, Williams N, Barnicoat A, Clement E, Faravelli F, Hurst J, Jenkins L, Jones W, Kumar VKA, Lees M, Loughlin S, Male A, Morrogh D, Rosser E, Scott R, Wilson L, Beleza A, Deshpande C, Flinter F, Holder M, Irving M, Izatt L, Josifova D, Mohammed S, Molenda A, Robert L, Roworth W, Ruddy D, Ryten M, Yau S, Bennett C, Blyth M, Campbell J, Coates A, Dobbie A, Hewitt S, Hobson E, Jackson E, Jewell R, Kraus A, Prescott K, Sheridan E, Thomson J, Bradshaw K, Dixit A, Eason J, Haines R, Harrison R, Mutch S, Sarkar A, Searle C, Shannon N, Sharif A, Suri M, Vasudevan P, Canham N, Ellis I, Greenhalgh L, Howard E, Stinton V, Swale A, Weber A, Banka S, Breen C, Briggs T, Burkitt-Wright E, Chandler K, Clayton-Smith J, Donnai D, Douzgou S, Gaunt L, Jones E, Kerr B, Langley C, Metcalfe K, Smith A, Wright R, Bourn D, Burn J, Fisher R, Hellens S, Henderson A, Montgomery T, Splitt M, Straub V, Wright M, Zwolinski S, Allen Z, Bernhard B, Brady A, Brooks C, Busby L, Clowes V, Ghali N, Holder S, Ibitoye R, Wakeling E, Blair E, Carmichael J, Cilliers D, Clasper S, Gibbons R, Kini U, Lester T, Nemeth A, Poulton J, Price S, Shears D, Stewart H, Wilkie A, Albaba S, Baker D, Balasubramanian M, Johnson D, Parker M, Quarrell O, Stewart A, Willoughby J, Crosby C, Elmslie F, Homfray T, Jin H, Lahiri N, Mansour S, Marks K, McEntagart M, Saggar A, Tatton-Brown K, Butler R, Clarke A, Corrin S, Fry A, Kamath A, McCann E, Mugalaasi H, Pottinger C, Procter A, Sampson J, Sansbury F, Varghese V, Baralle D, Callaway A, Cassidy EJ, Daniels S, Douglas A, Foulds N, Hunt D, Kharbanda M, Lachlan K, Mercer C, Side L, Temple IK, Wellesley D, Wright CF, FitzPatrick DR, Firth HV, Hurles ME

المصدر: Nature Communications, December 2021

وصف الملف: application/pdf

Relation: https://eprints.ncl.ac.uk/273115; https://eprints.ncl.ac.uk/fulltext.aspx?url=273115/A1C8A8B2-06CC-4C57-9D5D-5E2806D970F9.pdf&pub_id=273115

الاتاحة: https://eprints.ncl.ac.uk/273115

المؤلفون: Martin, HC, Gardner, EJ, Samocha, KE, Kaplanis, J, Akawi, N, Sifrim, A, Eberhardt, RY, Tavares, ALT, Neville, MDC, Niemi, MEK, Gallone, G, McRae, J, Borras, S, Clark, C, Dean, J, Miedzybrodzka, Z, Ross, A, Tennant, S, Dabir, T, Donnelly, D, Humphreys, M, Magee, A, McConnell, V, McKee, S, McNerlan, S, Morrison, PJ, Rea, G, Stewart, F, Cole, T, Cooper, N, Cooper-Charles, L, Cox, H, Islam, L, Jarvis, J, Keelagher, R, Lim, D, McMullan, D, Morton, J, Naik, S, O’Driscoll, M, Ong, KR, Osio, D, Ragge, N, Turton, S, Vogt, J, Williams, D, Bodek, S, Donaldson, A, Hills, A, Low, K, Newbury-Ecob, R, Norman, AM, Roberts, E, Scurr, I, Smithson, S, Tooley, M, Abbs, S, Armstrong, R, Dunn, C, Holden, S, Park, SM, Paterson, J, Raymond, L, Reid, E, Sandford, R, Simonic, I, Tischkowitz, M, Woods, G, Bradley, L, Comerford, J, Green, A, Lynch, S, McQuaid, S, Mullaney, B, Berg, J, Goudie, D, Mavrak, E, McLean, J, McWilliam, C, Reavey, E, Azam, T, Cleary, E, Jackson, A, Lam, W, Lampe, A, Moore, D, Porteous, M, Baple, E, Baptista, J, Brewer, C, Castle, B, Kivuva, E, Owens, M, Rankin, J, Shaw-Smith, C, Turner, C, Turnpenny, P, Tysoe, C, Bradley, T, Davidson, R

المصدر: Nature Communications , 12 (1) , Article 627. (2021) (In press).

مصطلحات موضوعية: Genetic association study, Medical genetics, Neurodevelopmental disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdf; https://discovery.ucl.ac.uk/id/eprint/10121927/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10121927/1/s41467-020-20852-3.pdf
https://discovery.ucl.ac.uk/id/eprint/10121927/

المؤلفون: Steward, CA, Roovers, J, Suner, M-M, Gonzalez, JM, Uszczynska-Ratajczak, B, Pervouchine, D, Fitzgerald, S, Viola, M, Stamberger, H, Hamdan, FF, Ceulemans, B, Leroy, P, Nava, C, Lepine, A, Tapanari, E, Keiller, D, Abbs, S, Sanchis-Juan, A, Grozeva, D, Rogers, AS, Diekhans, M, Guigo, R, Petryszak, R, Minassian, BA, Cavalleri, G, Vitsios, D, Petrovski, S, Harrow, J, Flicek, P, Raymond, FL, Lench, NJ, De Jonghe, P, Mudge, JM, Weckhuysen, S, Sisodiya, SM, Frankish, A

Relation: pii: 106; Steward, C. A., Roovers, J., Suner, M. -M., Gonzalez, J. M., Uszczynska-Ratajczak, B., Pervouchine, D., Fitzgerald, S., Viola, M., Stamberger, H., Hamdan, F. F., Ceulemans, B., Leroy, P., Nava, C., Lepine, A., Tapanari, E., Keiller, D., Abbs, S., Sanchis-Juan, A., Grozeva, D. ,. Frankish, A. (2019). Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. NPJ GENOMIC MEDICINE, 4 (1), https://doi.org/10.1038/s41525-019-0106-7.; http://hdl.handle.net/11343/245354

الاتاحة: http://hdl.handle.net/11343/245354

المؤلفون: French, CE, Delon, I, Dolling, H, Sanchis-Juan, A, Shamardina, O, Mégy, K, Abbs, S, Austin, T, Bowdin, S, Branco, RG, Firth, H, Tuna, S, Aitman, TJ, Ashford, S, Astle, WJ, Bennet, DL, Bleda, M, Carss, KJ, Chinnery, PF, Deevi, SVV, Fletcher, D, Gale, DP, Gräf, SF, Hu, F, James, R, Kasanicki, MA, Kingston, N, Koziell, AB, Allen, HL, Maher, ER, Markus, HS, Meacham, S, Morrell, NW, Penkett, CJ, Roberts, I, Smith, KGC, Stark, H, Stirrups, KE, Turro, E, Watkins, H, Williamson, C, Young, T, Bradley, JR, Ouwehand, WH, Raymond, FL, Agrawal, S, Armstrong, R, Beardsall, K, Belteki, G, Bohatschek, M, Broster, S, Campbell, R, Chaudhary, R, Costa, C, D’Amore, A, Fitzsimmons, A, Hague, J, Harley, J, Hoodbhoy, S, Kayani, R, Kelsall, W, Mehta, SG, O’Donnell, R, O’Hare, S, Ogilvy-Stuart, A, Papakostas, S, Park, SM, Parker, A, Pathan, N, Prapa, M, Sammut, A, Sandford, R, Schon, K, Singh, Y, Spike, K, Tavares, ALT, Wari-Pepple, D, Wong, HS, Woods, CG, Rowitch, DH

Relation: https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6; https://doi.org/10.1007/s00134-019-05552-x

الاتاحة: https://doi.org/10.1007/s00134-019-05552-x
https://ora.ox.ac.uk/objects/uuid:af323912-359d-4fac-ab6c-9eb91fc0a7e6

المؤلفون: Jurkute, N, Majander, A, Bowman, R, Votruba, M, Abbs, S, Acheson, J, Lenaers, G, Amati-Bonneau, P, Moosajee, M, Arno, G, Yu-Wai-Man, P

المصدر: European Journal of Human Genetics , 27 pp. 494-502. (2019)

مصطلحات موضوعية: Disease genetics, Neurological disorders

وصف الملف: text

Relation: https://discovery.ucl.ac.uk/id/eprint/10062110/1/CUGC%20final%20manuscript.pdf; https://discovery.ucl.ac.uk/id/eprint/10062110/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/10062110/1/CUGC%20final%20manuscript.pdf
https://discovery.ucl.ac.uk/id/eprint/10062110/

المؤلفون: Abbs, S., Tuffery-Giraud, S., Bakker, E., Ferlini, A., Sejersen, T., Mueller, C.R.

المساهمون: Repositório Científico do Instituto Nacional de Saúde

مصطلحات موضوعية: Best Practice Guidelines, Duchenne/Becker Muscular Dystrophies, Doenças Genéticas, Molecular Diagnostics

وصف الملف: application/pdf

Relation: 0960-8966

الاتاحة: http://hdl.handle.net/10400.18/4018

المؤلفون: Schon, K, Spasic-Boskovic, O, Brugger, K, Graves, TD, Abbs, S, Park, S-M, Ambegaonkar, G, Armstrong, R

مصطلحات موضوعية: MFN2, CMT2A, mosaicism, Charcot-Marie-tooth disease

وصف الملف: application/pdf

Relation: https://www.repository.cam.ac.uk/handle/1810/262881

الاتاحة: https://www.repository.cam.ac.uk/handle/1810/262881
https://doi.org/10.17863/CAM.8172

المؤلفون: Clissold, Rhian L., Clarke, H. C., Spasic-Boskovic, O., Brugger, K., Abbs, S., Bingham, Coralie, Shaw-Smith, Charles

مصطلحات موضوعية: Wessex Classification Subject Headings::Oncology. Pathology.::Genetics

وصف الملف: application/pdf

Relation: https://www.biomedcentral.com/1471-2369/18/234; Discovery of a novel dominant mutation in the REN gene after forty years of renal disease: a case report. 2017, 18 (1):234 BMC Nephrol; http://hdl.handle.net/11287/620446; BMC Nephrology

الاتاحة: http://hdl.handle.net/11287/620446
https://doi.org/10.1186/s12882-017-0631-5

المؤلفون: BOVOLENTA, Matteo, NERI, Marcella, FINI, Sergio, FABRIS, Marina, TRABANELLI, Cecilia, Venturoli A, MARTONI, Elena, BASSI, Elena, SPITALI, Pietro, BRIOSCHI, Simona, FALZARANO, Maria Sofia, RIMESSI, Paola, Ciccone R, Ashton E, McCauley J, Yau S, Abbs S, Muntoni F, MERLINI, Luciano, GUALANDI, Francesca, FERLINI, Alessandra

المساهمون: Bovolenta, Matteo, Neri, Marcella, Fini, Sergio, Fabris, Marina, Trabanelli, Cecilia, Venturoli, A, Martoni, Elena, Bassi, Elena, Spitali, Pietro, Brioschi, Simona, Falzarano, Maria Sofia, Rimessi, Paola, Ciccone, R, Ashton, E, Mccauley, J, Yau, S, Abbs, S, Muntoni, F, Merlini, Luciano, Gualandi, Francesca, Ferlini, Alessandra

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:000262194800003; volume:9; issue:572; firstpage:1; lastpage:11; numberofpages:11; journal:BMC GENOMICS; http://hdl.handle.net/11392/533202; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-58149284049

الاتاحة: http://hdl.handle.net/11392/533202
https://doi.org/10.1186/1471-2164-9-572

المؤلفون: Smedley, D, Abbs, S, Arno, G, Baple, E, Barnes, M, Beales, P, Bitner-Glindzicz, M, Black, G, Brennan, P, Chan, G, Chinnery, P, Cipriani, V, Ellard, S, Ellingford, J, Elliott, P, Firth, H, Flintner, F, Garikano, KI, Houlden, H, Irving, M, Jacobsen, J, McDonagh, E, McMullan, D, Moutsianas, L, Newman, W, Ouwehand, WH, Ratnaike, T, Martin, AR, Penkett, C, Raymond, F, Sayer, J, Scott, R, Smith, K, Stark, H, Stirrups, K, Taylor, J, Thomas, E, Tucci, A, Vandrovcova, J, Vestito, L, Webster, A, Wei, W, Wielscher, M, Williams, H, Wilkie, A, Wright, C, Rendon, A, Caulfield, M, BioResource, NIHR, Consortium, GER

وصف الملف: 54 - 55

Relation: European journal of human genetics; Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations. Eur J Hum Genet 28, 1–140 (2020). https://doi.org/10.1038/s41431-020-00740-6; https://qmro.qmul.ac.uk/xmlui/handle/123456789/70170

الاتاحة: https://qmro.qmul.ac.uk/xmlui/handle/123456789/70170
https://doi.org/10.1038/s41431-020-00740-6

المؤلفون: Garrett, Alice, Allen, Sophie, Durkie, Miranda, Burghel, George J., Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Rowlands, Charlie F., McVeigh, Terri, Hanson, Helen, Turnbull, Clare, Turnbull, C., Garrett, A., Loong, L., Choi, S., Torr, B., Allen, S., Durkie, M., Callaway, A., Drummond, J., Burghel, G.J., Robinson, R., Berry, I.R., Wallace, A.J., Eccles, D.M., Tischkowitz, M., Ellard, S., Hanson, H., Baple, E., Evans, D.G., Woodward, E., Lalloo, F., Samant, S., Lucassen, A., Znaczko, A., Shaw, A., Ansari, A., Kumar, A., Donaldson, A., Murray, A., Ross, A., Taylor-Beadling, A., Taylor, A., Innes, A., Brady, A., Kulkarni, A., Hogg, A.C., Bowden, A. Ramsay, Hadonou, A., Coad, B., McIldowie, B., Speight, B., DeSouza, B., Mullaney, B., McKenna, C., Brewer, C., Olimpio, C., Clabby, C., Crosby, C., Jenkins, C., Armstrong, C., Bowles, C., Brooks, C., Byrne, C., Maurer, C., Baralle, D., Chubb, D., Stobo, D., Moore, D., O'Sullivan, D., Donnelly, D., Randhawa, D., Halliday, D., Atkinson, E., Rauter, E., Johnston, E., Maher, E., Sofianopoulou, E., Petrides, E., McRonald, F., Pelz, F., Frayling, I., Corbett, G., Rea, G., Clouston, H., Powell, H., Williamson, H., Carley, H., Thomas, H.J.W., Tomlinson, I., Cook, J., Hoyle, J., Tellez, J., Whitworth, J., Williams, J., Murray, J., Campbell, J., Tolmie, J., Field, J., Mason, J., Burn, J., Bruty, J., Callaway, J., Grant, J., Del Rey Jimenez, J., Pagan, J., VanCampen, J., Barwell, J., Monahan, K., Tatton-Brown, K., Ong, K.R., Murphy, K., Andrews, K., Mokretar, K., Cadoo, K., Smith, K., Baker, K., Brown, K., Reay, K., McKay Bounford, K., Bradshaw, K., Russell, K., Stone, K., Snape, K., Crookes, L., Reed, L., Taggart, L., Yarram, L., Cobbold, L., Walker, L., Walker, L., Hawkes, L., Busby, L., Izatt, L., Kiely, L., Hughes, L., Side, L., Sarkies, L., Greenhalgh, K.-L., Shanmugasundaram, M., Duff, M., Bartlett, M., Watson, M., Owens, M., Bradford, M., Huxley, M., Slean, M., Ryten, M., Smith, M., Ahmed, M., Roberts, N., O'Brien, C., Middleton, O., Tarpey, P., Logan, P., Dean, P., May, P., Brace, P., Tredwell, R., Harrison, R., Hart, R., Kirk, R., Martin, R., Nyanhete, R., Wright, R., Martin, R., Davidson, R., Cleaver, R., Talukdar, S., Butler, S., Sampson, J., Ribeiro, S., Dell, S., Mackenzie, S., Hegarty, S., Albaba, S., McKee, S., Palmer-Smith, S., Heggarty, S., MacParland, S., Greville-Heygate, S., Daniels, S., Prapa, S., Abbs, S., Tennant, S., Hardy, S., MacMahon, S., McVeigh, T., Foo, T., Bedenham, T., Cranston, T., McDevitt, T., Clowes, V., Tripathi, V., McConnell, V., Woodwaer, N., Wallis, Y., Kemp, Z., Mullan, G., Pierson, L., Rainey, L., Joyce, C., Timbs, A., Reuther, A.-M., Frugtniet, B., DeSouza, B., Husher, C., Lawn, C., Corbett, C., Nocera-Jijon, D., Reay, D., Cross, E., Ryan, F., Lindsay, H., Oliver, J., Dring, J., Spiers, J., Harper, J., Ciucias, K., Connolly, L., Tsang, M., Brown, R., Shepherd, S., Begum, S., Daniels, S., Tadiso, T., Linton-Willoughby, T., Heppell, H., Sahan, K., Worrillow, L., Allen, Z., Watt, C., Hegarty, M., Mitchell, R., Coles, R., Nickless, G., Cojocaru, E., Doal, I., Sava, F., McCarthy, C., Jeeneea, R., Goudie, D., McConachie, M., Botosneanu, S., Kavanaugh, G., Russell, K., Sherlaw, C., Tsoulaki, O., Forde, C., Petley, E., Jones, A.-B., Oprych, K., Pryde, S., Hyder, Z., Elkhateeb, N., Braham, R., Hanington, L., Huntley, C., Irving, R., Sadan, A., Ramos, M., Elliot, C., Wren, D., Lobo, D., McLean, J., May, D., Kearney, L., Campbell, T., Asakura, K., Alwadi, L., O’Shea, R., Gabriel, J., Chiecchio, L., Bowman, P., Sutton, L.A., Walsh, C., Cloke, V., Ucanok, D., Davies, J., Pleasance, B., Maguire, E., Whaite, A., Best, S., Westbury, S., Logan, A., Navarajasegaran, D., Bench, A., Wightman, P., Cartwright, A., Higgs, E., J.Bott, Whitehouse, H., Stevens, J., Martin, D., Dunlop, J., Thomas, S., Sau, C., Farndon, S., Coleman, N., Angelini, P., Duff, M., Massey, H., Rowlands, C., Garcia-Petit, C., Gillespie, K., Alder, A., Middleton, E., Cassidy, C., Orfali, N., Webb, A., Luharia, A., Walker, N., Charlton, J., Andreou, A., Peddie, J., Khan, M., Wilkinson, L., Bezuidenhout, H., Edis, M., Callard, A., Ostrowski, P., Moverley, P., Bean, K., Dunne, A., Moleirinho, A., Waller, S., Cox, K., Greensmith, L., Brittle, A., Gossan, N., Freestone, L., Shak, C., Langford, T., Clinch, Y., Livesey, H., Borland, S., Joshi, A., Wall, K., Whitworth, A., Wilsdon, A., Edgerley, K., Pugh, S., Chrysochoidi, N., Mutch, S., McMullan, C., Johnston, Y., Muraru, M., May, A., Begum, R., Smith, C., Patel, R., Bhatnagar, I., Taylor, A., Brown, D., Willan, J., Taylor, S., Jones, K., Cox, K., Ramsden, C., Taiwo, O., Jaudzemaite, J., Sharmin, R., Young, L., O’Dubhshlaine, C., McSorley, L., Rodriguez, I. Abreu, Lillis, S., Alexopoulos, P., Mortensson, E., Kingham, L., Moore, R., Kosicka-Slawinska, M., Aslam, S., Wells, R., Carter, A., Warren, H., Rolf, E., Reed, H., Pearce, L., Lock, D., Ali, F., Kolozi, A., White, N., Wood, D., Hayden, C.

المصدر: Genetics in Medicine; February 2025, Vol. 27 Issue: 2

المؤلفون: Greenhalgh L, Fowler T, Karen Temple, Kane Smith, Deshpande, Subramanian S. Ajay, Bourn D, Menzies L, James M. Polke, Pasko D, Polychronopoulos D, Augusto Rendon, Pietro Fratta, Madeleine Reilly, Daugherty L, Chitty Ls, Eggleton K, Raymond Fl, Thomas T. Warner, Paul Brennan, Sian Ellard, Denise L. Perry, Jill Davison, A. C. Need, Arianna Tucci, Prasad Korlipara Lv, Mark J. Caulfield, Meriel McEntagart, Huw R. Morris, Kikkeri N. Naresh, Jenny C. Taylor, Patrick F. Chinnery, Anette Schrag, Aditi Chawla, Deans Zc, Henry Houlden, Twiss P, Douglas A, Sheikh I, Jonathan M. Schott, Hill S, Moutsianas L, Nicholas W. Wood, Tanner Hagelstrom, Robinson R, D. Kasperaviciute, Faravelli F, Rajan, Kristina Ibáñez, Antonio Rueda Martin, Emma L. Baple, Robin Howard, Ellen M. McDonagh, Elisabeth Rosser, Oprych K, Richard Festenstein, John A. Sayer, Kailash P. Bhatia, Michael A. Eberle, Andrew D Mumford, Angus-Leppan H, Thomas E, Matilde Laura, McMullan D, Brittain H, Paola Giunti, Richard H. Scott, Wilson G, Taylor Tavares Al, Ryan J. Taft, Patch C, Hyder Z, Robyn Labrum, Almheiri G, Frances Flinter, Egor Dolzhenko, Santos L, Abbs S, William G. Newman, Jana Vandrovcova

مصطلحات موضوعية: Whole genome sequencing, Pediatrics, medicine.medical_specialty, medicine.diagnostic_test, business.industry, Genome, Medicine, Social care, False positive rate, Allele, Family history, business, Trinucleotide repeat expansion, Genetic testing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::726e4fb0332468372a1aa969b249ce84
https://doi.org/10.1101/2020.11.06.371716

المؤلفون: Stevens, J C, Beck, J, Lukic, A, Ryan, N, Abbs, S, Collinge, J, Fox, N C, Mead, S

مصطلحات موضوعية: Short reports

وصف الملف: text/html

Relation: http://jnnp.bmj.com/cgi/content/short/82/9/1054; http://dx.doi.org/10.1136/jnnp.2009.199653

الاتاحة: http://jnnp.bmj.com/cgi/content/short/82/9/1054
https://doi.org/10.1136/jnnp.2009.199653

المؤلفون: Rajakulendran, S., Kuntzer, T., Dunand, M., Yau, S.C., Ashton, E.J., Storey, H., McCauley, J., Abbs, S., Thonney, F., Leturcq, F., Lobrinus, J.A., Yousry, T., Farmer, S., Holton, J.L., Hanna, M.G.

المصدر: Archives of Neurology, vol. 67, no. 4, pp. 497-500

مصطلحات موضوعية: Adult, Arm/pathology, Arm/physiopathology, DNA Mutational Analysis, Dystrophin/genetics, Exons/genetics, Female, Functional Laterality/physiology, Genetic Diseases, X-Linked/genetics, X-Linked/pathology, Genetic Predisposition to Disease, Genetic Testing, Genotype, Heterozygote, Humans, Leg/pathology, Leg/physiopathology, Magnetic Resonance Imaging, Middle Aged, Mosaicism, Muscle, Skeletal/pathology, Skeletal/physiopathology, Muscular Atrophy/genetics, Muscular Atrophy/pathology, Muscular Dystrophy, Duchenne/genetics, Mutation/genetics, X Chromosome Inactivation/genetics

وصف الملف: application/pdf

Relation: info:eu-repo/semantics/altIdentifier/pmid/20385919; info:eu-repo/semantics/altIdentifier/eissn/1538-3687; info:eu-repo/semantics/altIdentifier/urn/urn:nbn:ch:serval-BIB_312A8E4A77EA4; https://serval.unil.ch/notice/serval:BIB_312A8E4A77EA; https://serval.unil.ch/resource/serval:BIB_312A8E4A77EA.P001/REF.pdf

الاتاحة: https://serval.unil.ch/notice/serval:BIB_312A8E4A77EA
https://serval.unil.ch/resource/serval:BIB_312A8E4A77EA.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_312A8E4A77EA4

المؤلفون: Kinali, M, Arechavala-Gomeza, V, Feng, L, Cirak, S, Hunt, D, Adkin, C, Guglieri, M, Ashton, E, Abbs, S, Nihoyannopoulos, P, Garralda, M E, Rutherford, M, McCulley, C, Popplewell, L, Graham, I R, Dickson, G, Wood, M J, Wells, D J, Wilton, S D, Kole, R, Staub, V, Bushby, K, Sewry, C, Morgan, J E, Muntoni, F

وصف الملف: text

Relation: https://researchonline.rvc.ac.uk/id/eprint/4922/1/4922.pdf; Kinali, M and Arechavala-Gomeza, V and Feng, L and Cirak, S and Hunt, D and Adkin, C and Guglieri, M and Ashton, E and Abbs, S and Nihoyannopoulos, P and Garralda, M E and Rutherford, M and McCulley, C and Popplewell, L and Graham, I R and Dickson, G and Wood, M J and Wells, D J and Wilton, S D and Kole, R and Staub, V and Bushby, K and Sewry, C and Morgan, J E and Muntoni, F (2009) Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-esclation, proof-of-concept study. Lancet Neurology, 8 (10). pp. 918-28.

الاتاحة: https://researchonline.rvc.ac.uk/id/eprint/4922/
https://researchonline.rvc.ac.uk/id/eprint/4922/1/4922.pdf

المؤلفون: Kinali, M., Arechavala-Gomeza, V., Feng, L., Cirak, S., Hunt, D., Adkin, C., Guglieri, M., Ashton, E., Abbs, S., Nihoyannopoulos, P., Garralda, M.E., Rutherford, M., Mcculley, C., Popplewell, L., Graham, I.R., Dickson, G., Wood, M.J.A., Wells, D.J., Wilton, S.D., Kole, R., Straub, V., Bushby, K., Sewry, C., Morgan, J.E., Muntoni, F.

وصف الملف: pdf

Relation: ispartof: The Lancet Neurology spage 918 epage 928 issue 10 vol 8; http://dx.doi.org/10.1016/S1474-4422(09)70211-X; 991005542433807891; https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Local-restoration-of-dystrophin-expression-with/991005542433807891; https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135759890007891/13136760550007891; alma:61MUN_INST/bibs/991005542433807891

الاتاحة: https://doi.org/10.1016/S1474-4422(09)70211-X
https://researchportal.murdoch.edu.au/esploro/outputs/journalArticle/Local-restoration-of-dystrophin-expression-with/991005542433807891
https://researchportal.murdoch.edu.au/view/delivery/61MUN_INST/12135759890007891/13136760550007891

المؤلفون: Bovolenta, M, Neri, M, Fini, S, Fabris, M, Trabanelli, C, Venturoli, A, Martoni, E, Bassi, E, Spitali, P, Brioschi, S, Falzarano, MS, Rimessi, P, Ciccone, R, Ashton, E, McCauley, J, Yau, S, Abbs, S, Muntoni, F, Merlini, L, Gualandi, F, Ferlini, A

المصدر: BMC GENOMICS , 9 , Article 572. (2008)

مصطلحات موضوعية: DUCHENNE MUSCULAR-DYSTROPHY, MENTAL-RETARDATION, GENE, CGH, DUPLICATIONS, DELETIONS, IMPAIRMENT, PHENOTYPES, MEDICINE, ISOFORM

وصف الملف: application/pdf

Relation: https://discovery.ucl.ac.uk/id/eprint/87865/1/1471-2164-9-572.pdf; https://discovery.ucl.ac.uk/id/eprint/87865/

الاتاحة: https://discovery.ucl.ac.uk/id/eprint/87865/1/1471-2164-9-572.pdf
https://discovery.ucl.ac.uk/id/eprint/87865/

المؤلفون: Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., Manzur, A. Y., Kinali, M., Torelli, S., Brown, S. C., Sewry, C. A., Bushby, K., Topaloglu, H., North, K., Abbs, S., Muntoni, F.

المصدر: Brain ; volume 130, issue 10, page 2725-2735 ; ISSN 0006-8950 1460-2156

الاتاحة: https://doi.org/10.1093/brain/awm212
http://academic.oup.com/brain/article-pdf/130/10/2725/1073030/awm212.pdf