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1دورية أكاديمية
المؤلفون: Rhett G. Marchant, Samantha J. Bryen, Melanie Bahlo, Anita Cairns, Katherine R. Chao, Alastair Corbett, Mark R. Davis, Vijay S. Ganesh, Roula Ghaoui, Kristi J. Jones, Andrew J. Kornberg, Monkol Lek, Christina Liang, Daniel G. MacArthur, Emily C. Oates, Anne O'Donnell‐Luria, Gina L. O'Grady, Ikeoluwa A. Osei‐Owusu, Haloom Rafehi, Stephen W. Reddel, Richard H. Roxburgh, Monique M. Ryan, Sarah A. Sandaradura, Liam W. Scott, Elise Valkanas, Ben Weisburd, Helen Young, Frances J. Evesson, Leigh B. Waddell, Sandra T. Cooper
المصدر: Annals of Clinical and Translational Neurology, Vol 11, Iss 5, Pp 1250-1266 (2024)
مصطلحات موضوعية: Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2328-9503Test
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2دورية أكاديمية
المؤلفون: Charli Ji, Didu S. Kariyawasam, Hugo Sampaio, Michelle Lorentzos, Kristi J. Jones, Michelle A. Farrar
المصدر: The Lancet Regional Health. Western Pacific, Vol 45, Iss , Pp 101049- (2024)
مصطلحات موضوعية: Duchenne muscular dystrophy, Newborn screening, Perspectives, Caregiver, Provider, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666606524000439Test; https://doaj.org/toc/2666-6065Test
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3دورية أكاديمية
المؤلفون: Ursula Moore, Ericky Caldas de Almeida Araújo, Harmen Reyngoudt, Heather Gordish‐Dressman, Fiona E. Smith, Ian Wilson, Meredith James, Anna Mayhew, Laura Rufibach, John W. Day, Kristi J. Jones, Diana X. Bharucha‐Goebel, Emmanuelle Salort‐Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori‐Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, The Jain COS Consortium, Kate Bushby, Andrew M. Blamire, Volker Straub, Pierre G. Carlier, Jordi Diaz‐Manera
المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 13, Iss 6, Pp 2888-2897 (2022)
مصطلحات موضوعية: Magnetic resonance imaging, Water T2, Limb girdle muscular dystrophy, Limb girdle muscular dystrophy R2, Limb girdle muscular dystrophy 2B, Diseases of the musculoskeletal system, RC925-935, Human anatomy, QM1-695
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene D’Silva
المصدر: Genes; Volume 14; Issue 7; Pages: 1403
مصطلحات موضوعية: spinal muscular atrophy, carrier frequency, silent carrier, reproductive carrier screening
جغرافية الموضوع: agris
وصف الملف: application/pdf
العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes14071403Test
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5دورية أكاديمية
المؤلفون: Samantha J. Bryen, Michaela Yuen, Himanshu Joshi, Ruebena Dawes, Katharine Zhang, Jessica K. Lu, Kristi J. Jones, Christina Liang, Wui-Kwan Wong, Anthony J. Peduto, Leigh B. Waddell, Frances J. Evesson, Sandra T. Cooper
المصدر: HGG Advances, Vol 3, Iss 4, Pp 100125- (2022)
مصطلحات موضوعية: AG exclusion zone, extended acceptor splice-site variants, pre-mRNA splicing, pseudo-exon, minigene, RNA diagnostics, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2666247722000410Test; https://doaj.org/toc/2666-2477Test
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6دورية أكاديمية
المؤلفون: Anna G. Mayhew, Meredith K. James, Ursula Moore, Helen Sutherland, Marni Jacobs, Jia Feng, Linda Pax Lowes, Lindsay N. Alfano, Robert Muni Lofra, Laura E. Rufibach, Kristy Rose, Tina Duong, Luca Bello, Irene Pedrosa-Hernández, Scott Holsten, Chikako Sakamoto, Aurélie Canal, Nieves Sánchez-Aguilera Práxedes, Simone Thiele, Catherine Siener, Bruno Vandevelde, Brittney DeWolf, Elke Maron, Heather Gordish-Dressman, Heather Hilsden, Michela Guglieri, Jean-Yves Hogrel, Andrew M. Blamire, Pierre G. Carlier, Simone Spuler, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Jordi Díaz-Manera, Elena Pegoraro, Jerry R. Mendell, Volker Straub
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: limb girdle muscular dystrophy, dysferlinopathy, PROMs, quality of life, clinical outcome assessments, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2022.828525/fullTest; https://doaj.org/toc/1664-2295Test
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7
المؤلفون: Laura Llansó, Ursula Moore, Carla Bolano-Diaz, Meredith James, Andrew M. Blamire, Pierre G. Carlier, Laura Rufibach, Heather Gordish-Dressman, Georgina Boyle, Heather Hilsden, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Volker Straub, Jordi Díaz-Manera
المصدر: Neuromuscular Disorders. 33:349-357
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5ad1448b6e9bf70f791eec892f2d6c61Test
https://doi.org/10.1016Test/j .nmd.2023.02.007 -
8
المؤلفون: Ursula Moore, Esther Fernández-Simón, Marianela Schiava, Dan Cox, Heather Gordish-Dressman, Meredith K. James, Anna Mayhew, Ian Wilson, Michela Guglieri, Laura Rufibach, Andrew Blamire, Pierre G. Carlier, Madoka Mori-Yoshimura, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Jordi Diaz-Manera, Volker Straub
المصدر: Neuromuscular Disorders. 33:199-207
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3a68cf7db858a35b3c33670d73887d51Test
https://doi.org/10.1016Test/j .nmd.2023.01.001 -
9دورية أكاديمية
المؤلفون: Ursula Moore, Marni Jacobs, Roberto Fernandez-Torron, Jaume LLauger Rossello, Fiona E. Smith, Meredith James, Anna Mayhew, Laura Rufibach, Pierre G. Carlier, Andrew M. Blamire, John W. Day, Kristi J. Jones, Diana X. Bharucha-Goebel, Emmanuelle Salort-Campana, Alan Pestronk, Maggie C. Walter, Carmen Paradas, Tanya Stojkovic, Madoka Mori-Yoshimura, Elena Bravver, Elena Pegoraro, Jerry R. Mendell, Kate Bushby, Volker Straub, Jordi Diaz-Manera
المصدر: Frontiers in Neurology, Vol 11 (2020)
مصطلحات موضوعية: dysferlinopathy, Magnetic Resonace Imaging (MRI), Miyoshi myopathy, LGMDR2, limb girdle muscle dystrophy, exercise, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2020.613446/fullTest; https://doaj.org/toc/1664-2295Test
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10
المؤلفون: D’Silva, Joanne E Davidson, Jacqueline S Russell, Noelia Nunez Martinez, David R Mowat, Kristi J Jones, Edwin P Kirk, Didu Kariyawasam, Michelle Farrar, Arlene
المصدر: Genes; Volume 14; Issue 7; Pages: 1403
مصطلحات موضوعية: spinal muscular atrophy, carrier frequency, silent carrier, reproductive carrier screening
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=multidiscipl::5da6b9f521196378f4b041c8e7592f83Test