المؤلفون: Ghaoui, Roula, Needham, Merrilee

المصدر: Advances in Clinical Neuroscience & Rehabilitation, Vol 19, Iss 3, Pp 17-20 (2020)

مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

وصف الملف: electronic resource

العلاقة: https://www.acnr.co.uk/2020/08/muscle-disordersTest/; https://doaj.org/toc/1473-9348Test

الوصول الحر: https://doaj.org/article/6405c7127a81445c90e91f4e372658dcTest

المؤلفون: Marchant, Rhett G., Bryen, Samantha J., Bahlo, Melanie, Cairns, Anita, Chao, Katherine R., Corbett, Alastair, Davis, Mark R., Ganesh, Vijay S., Ghaoui, Roula, Jones, Kristi J., Kornberg, Andrew J., Lek, Monkol, Liang, Christina, MacArthur, Daniel G., Oates, Emily C., O'Donnell‐Luria, Anne, O'Grady, Gina L., Osei‐Owusu, Ikeoluwa A., Rafehi, Haloom, Reddel, Stephen W., Roxburgh, Richard H., Ryan, Monique M., Sandaradura, Sarah A., Scott, Liam W., Valkanas, Elise, Weisburd, Ben, Young, Helen, Evesson, Frances J., Waddell, Leigh B., Cooper, Sandra T.

المساهمون: National Human Genome Research Institute, National Health and Medical Research Council, National Eye Institute

المصدر: Annals of Clinical and Translational Neurology ; ISSN 2328-9503 2328-9503

الإتاحة: https://doi.org/10.1002/acn3.52041Test

المؤلفون: Cummings, Beryl B., Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O'Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad J., O'Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bonnemann, Carsten G., MacArthur, Daniel G., GTEx Consortium, Han, Buhm

المساهمون: Han, Buhm

مصطلحات موضوعية: ENHANCERS ESES, RNA-SEQ, MUTATIONS, VARIANTS, GUIDELINES, TOOL

العلاقة: Science Translational Medicine, Vol.9 No.386, p. eaal5209; https://hdl.handle.net/10371/191533Test; 000399454600005; 2-s2.0-85018570855; 181323

الإتاحة: https://doi.org/10.1126/scitranslmed.aal5209Test
https://hdl.handle.net/10371/191533Test

المؤلفون: Scriba, Carolin K, Stevanovski, Igor, Chintalaphani, Sanjog R, Gamaarachchi, Hasindu, Ghaoui, Roula, Ghia, Darshan, Henderson, Robert D, Jordan, Nerissa, Winkel, Antony, Lamont, Phillipa J, Rodrigues, Miriam J, Roxburgh, Richard H, Weisburd, Ben, Laing, Nigel G, Deveson, Ira W

مصطلحات موضوعية: Clinical sciences, Neurosciences, Biological psychology, ataxia, CANVAS, RFC1, sensory neuropathy, STR

العلاقة: Brain Communications; Scriba, CK; Stevanovski, I; Chintalaphani, SR; Gamaarachchi, H; Ghaoui, R; Ghia, D; Henderson, RD; Jordan, N; Winkel, A; Lamont, PJ; Rodrigues, MJ; Roxburgh, RH; Weisburd, B; Laing, NG; Deveson, IW; Davis, MR; Ravenscroft, G, RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics, Brain Communications, 2023, 5 (4), pp. fcad208; http://hdl.handle.net/10072/425696Test

الإتاحة: https://doi.org/10.1093/braincomms/fcad208Test
http://hdl.handle.net/10072/425696Test

المؤلفون: Sue, Carolyn M, Balasubramaniam, Shanti, Bratkovic, Drago, Bonifant, Catherine, Christodoulou, John, Coman, David, Crawley, Karen, Edema-Hildebrand, Fabienne, Ellaway, Carolyn, Ghaoui, Roula, Kearns, Lisa S, Lee, Joy, Liang, Christina, Mackey, David A

مصطلحات موضوعية: Clinical sciences, Public health, Cardiovascular medicine and haematology, clinical guidelines, mitochondrial disease, treatment

العلاقة: Internal Medicine Journal; Sue, CM; Balasubramaniam, S; Bratkovic, D; Bonifant, C; Christodoulou, J; Coman, D; Crawley, K; Edema-Hildebrand, F; Ellaway, C; Ghaoui, R; Kearns, LS; Lee, J; Liang, C; Mackey, DA; et al., Patient Care Standards for Primary Mitochondrial Disease in Australia. An Australian adaptation of the Mitochondrial Medicine Society recommendations, Internal Medicine Journal, 2021; http://hdl.handle.net/10072/408390Test

الإتاحة: https://doi.org/10.1111/imj.15505Test
http://hdl.handle.net/10072/408390Test

المؤلفون: Christodoulou, John, Baker, Naomi, Balasubramaniam, Shanti, Best, Stephanie, Bhattacharya, Kaustuv, Boggs, Kristen, Borrie, Sarah, Bratkovic, Drago, Braithwaite, Jeffrey, Bray, Alessandra, Burke, Jo, Coman, David, Compton, Alison G., Cowley, Mark, Delatycki, Martin, De Silva, Michelle, Ellaway, Carolyn, Fahey, Michael, Fletcher, Janice, Frajman, Leah, Frazier, Ann, Gayeskiv, Velimer, Ghaoui, Roula, Goel, Himanshu, Goranitis, Ilias, Hock, Daniella H., Howting, Denise, Jackson, Matilda, Kava, Maina, King-Smith, Sarah, Lake, Nicole J., Lamont, Phillipa J., Yaplito-Lee, Joy, Long, Janet, MacShane, Mandi, Martin, Ellenore, McGill, Jim, Murray, Sean, Panetta, Julie, Phillips, Liza, Quinn, Michael, Rius, Rocio, Ryan, Michael, Smith, Nicholas, Stroud, David, Tchan, Michel, Tom, Melanie, Wallis, Matthew, Ware, Tyson, Welch, AnneMarie, Wools, Christine, Wu, Eunice, Thorburn, David R.

المصدر: Christodoulou , J , Baker , N , Balasubramaniam , S , Best , S , Bhattacharya , K , Boggs , K , Borrie , S , Bratkovic , D , Braithwaite , J , Bray , A , Burke , J , Coman , D , Compton , A G , Cowley , M , Delatycki , M , De Silva , M , Ellaway , C , Fahey , M , Fletcher , J , Frajman , L , Frazier , A , Gayeskiv , V , Ghaoui , R , Goel , H , Goranitis ....

الإتاحة: https://researchers.mq.edu.au/en/publications/6a4f1e1d-30cc-4fd4-b2ac-8207b88d7d5aTest

المؤلفون: 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.

المساهمون: National Health and Medical Research Council, Brain Foundation, Royal Adelaide Hospital Research Fund

المصدر: Neuromuscular Disorders ; volume 33, issue 6, page 484-489 ; ISSN 0960-8966

مصطلحات موضوعية: Genetics (clinical), Neurology (clinical), Neurology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1016/j.nmd.2023.04.002Test
https://api.elsevier.com/content/article/PII:S0960896623000998?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0960896623000998?httpAccept=text/plainTest

المؤلفون: Ghaoui, Roula, Curtis, Samuel, Kassahn, Karin S.

المصدر: JAMA Neurology ; volume 80, issue 8, page 868 ; ISSN 2168-6149

الإتاحة: https://doi.org/10.1001/jamaneurol.2023.1286Test
https://jamanetwork.com/journals/jamaneurology/articlepdf/2805320/jamaneurology_ghaoui_2023_im_230007_1691787021.36517.pdfTest

المؤلفون: Cummings, Beryl, Marshall, Jamie L., Tukiainen, Taru, Lek, Monkol, Donkervoort, Sandra, Foley, A. Reghan, Bolduc, Veronique, Waddell, Leigh B., Sandaradura, Sarah A., O’Grady, Gina L., Estrella, Elicia, Reddy, Hemakumar M., Zhao, Fengmei, Weisburd, Ben, Karczewski, Konrad, O’Donnell-Luria, Anne H., Birnbaum, Daniel, Sarkozy, Anna, Hu, Ying, Gonorazky, Hernan, Claeys, Kristl, Joshi, Himanshu, Bournazos, Adam, Oates, Emily C., Ghaoui, Roula, Davis, Mark R., Laing, Nigel G., Topf, Ana, Kang, Peter B., Beggs, Alan H., North, Kathryn N., Straub, Volker, Dowling, James J., Muntoni, Francesco, Clarke, Nigel F., Cooper, Sandra T., Bönnemann, Carsten G., MacArthur, Daniel G.

المساهمون: Broad Institute of MIT and Harvard, Lincoln Laboratory

المصدر: PMC

وصف الملف: application/pdf

العلاقة: http://dx.doi.org/10.1126/scitranslmed.aal5209Test; Science Translational Medicine; https://hdl.handle.net/1721.1/127810Test; Cummings, Beryl B. et al. "Improving genetic diagnosis in Mendelian disease with transcriptome sequencing." Science Translational Medicine 9, 386 (April 2017): eaal5209 © 2017 The Authors

الإتاحة: https://doi.org/10.1126/scitranslmed.aal5209Test
https://hdl.handle.net/1721.1/127810Test

المؤلفون: Riley, Lisa G., Waddell, Leigh B., Ghaoui, Roula, Evesson, Frances J., Cummings, Beryl B., Bryen, Samantha J., Joshi, Himanshu, Wang, Min-Xia, Brammah, Susan, Kritharides, Leonard, Corbett, Alastair, MacArthur, Daniel G., Cooper, Sandra T.

المساهمون: Department of Health | National Health and Medical Research Council, U.S. Department of Health & Human Services | NIH | National Human Genome Research Institute

المصدر: European Journal of Human Genetics ; volume 27, issue 8, page 1267-1273 ; ISSN 1018-4813 1476-5438

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1038/s41431-019-0393-6Test
http://www.nature.com/articles/s41431-019-0393-6.pdfTest
http://www.nature.com/articles/s41431-019-0393-6Test