Zobrazeno 1 - 10
of 17
pro vyhledávání: '"Fiona, Gardiner"'
Autor:
Mathew Wallis, Simon D. Bodek, Jacob Munro, Haloom Rafehi, Mark F. Bennett, Zimeng Ye, Amy Schneider, Fiona Gardiner, Giulia Valente, Emma Murdoch, Eloise Uebergang, Jacquie Hunter, Chloe Stutterd, Aamira Huq, Lucinda Salmon, Ingrid Scheffer, Dhamidhu Eratne, Stephen Meyn, Chun Y. Fong, Tom John, Saul Mullen, Susan M. White, Natasha J. Brown, George McGillivray, Jesse Chen, Chris Richmond, Andrew Hughes, Emma Krzesinski, Andrew Fennell, Brian Chambers, Renee Santoreneos, Anna Le Fevre, Michael S. Hildebrand, Melanie Bahlo, John Christodoulou, Martin Delatycki, Samuel F. Berkovic
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-14 (2024)
Abstract Background Significant recent efforts have facilitated increased access to clinical genetics assessment and genomic sequencing for children with rare diseases in many centres, but there remains a service gap for adults. The Austin Health Adu
Externí odkaz:
https://doaj.org/article/3db51aa91e4d4222a42db0a751cb4260
Autor:
Anna Patten, Pavel Vlasov, Bettina Schmitz, Luc Valton, Fiona Gardiner, Ricardo Sáinz-Fuertes
Publikováno v:
BMJ Neurology Open, Vol 6, Iss Suppl 1 (2024)
Externí odkaz:
https://doaj.org/article/72875211a39847038a2349b86535a8ad
Autor:
Don Watson, Fiona Gardiner
Publikováno v:
Karl Langer. :75-104
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::23c80aaf4d8b66e959322ad8030b9576
https://doi.org/10.5040/9781350068131.ch-004
https://doi.org/10.5040/9781350068131.ch-004
Autor:
Fiona Gardiner, Don Watson
Publikováno v:
Karl Langer. :49-74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6f120f19874891e24f019e03eb5d043c
https://doi.org/10.5040/9781350068131.ch-003
https://doi.org/10.5040/9781350068131.ch-003
Autor:
Christopher R Harlow, Xuan Wu, Marielle van Deemter, Fiona Gardiner, Craig Poland, Rebecca Green, Sana Sarvi, Pamela Brown, Karl E Kadler, Yinhui Lu, J Ian Mason, Hilary O D Critchley, Stephen G Hillier
Publikováno v:
PLoS ONE, Vol 12, Iss 8, p e0183013 (2017)
Abdominal surgery and disease cause persistent abdominal adhesions, pelvic pain, infertility and occasionally, bowel obstruction. Current treatments are ineffective and the aetiology is unclear, although excessive collagen deposition is a consistent
Externí odkaz:
https://doaj.org/article/e05ed63c7a5b49d6b351fb6517bf7a40
Autor:
Zimeng Ye, Sufang Lin, Xia Zhao, Mark F. Bennett, Natasha J. Brown, Mathew Wallis, Xinyi Gao, Li Sun, Jiarui Wu, Ravikiran Vedururu, Tom Witkowski, Fiona Gardiner, Chloe Stutterd, Jing Duan, Saul A. Mullen, George McGillivray, Simon Bodek, Giulia Valente, Matthew Reagan, Yi Yao, Lin Li, Li Chen, Amber Boys, Thiuni N. Adikari, Dezhi Cao, Zhanqi Hu, Victoria Beshay, Victor W. Zhang, Samuel F. Berkovic, Ingrid E. Scheffer, Jianxiang Liao, Michael S. Hildebrand
Publikováno v:
Human mutationREFERENCES. 43(12)
Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%-15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the contrib
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::246cc95ca26153c3f65d149ecfbdc005
https://pubmed.ncbi.nlm.nih.gov/36030538
https://pubmed.ncbi.nlm.nih.gov/36030538
Autor:
Fiona Gardiner
Publikováno v:
Proceedings of the Society of Architectural Historians, Australia and New Zealand..
From the 1970s social and political changes in Australia and the burgeoning feminist movement were challenging established power relationships and hierarchies. This paper explores how in the 1980s groups of women architects actively took positions th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81d2c5983880ca4d8440b99f96b8242d
https://doi.org/10.55939/a4001phps8
https://doi.org/10.55939/a4001phps8
Autor:
Hannah Stamberger, David Crosiers, Ganna Balagura, Claudia M. Bonardi, Anna Basu, Gaetano Cantalupo, Valentina Chiesa, Jakob Christensen, Bernardo Dalla Bernardina, Colin A. Ellis, Francesca Furia, Fiona Gardiner, Camille Giron, Renzo Guerrini, Karl Martin Klein, Christian Korff, Hana Krijtova, Melanie Leffler, Holger Lerche, Gaetan Lesca, David Lewis-Smith, Carla Marini, Dragan Marjanovic, Laure Mazzola, Sarah McKeown Ruggiero, Fanny Mochel, Francis Ramond, Philipp S. Reif, Aurélie Richard-Mornas, Felix Rosenow, Christian Schropp, Rhys H. Thomas, Aglaia Vignoli, Yvonne Weber, Elizabeth Palmer, Ingo Helbig, Ingrid E. Scheffer, Pasquale Striano, Rikke S. Møller, Elena Gardella, Sarah Weckhuysen
Publikováno v:
Stamberger, H, Crosiers, D, Balagura, G, Bonardi, C M, Basu, A, Cantalupo, G, Chiesa, V, Christensen, J, Dalla Bernardina, B, Ellis, C A, Furia, F, Gardiner, F, Giron, C, Guerrini, R, Klein, K M, Korff, C, Krijtova, H, Leffner, M, Lerche, H, Lesca, G, Lewis-Smith, D, Marini, C, Marjanovic, D, Mazzola, L, McKeown Ruggiero, S, Mochel, F, Ramond, F, Reif, P S, Richard-Mornas, A, Rosenow, F, Schropp, C, Thomas, R H, Vignoli, A, Weber, Y, Palmer, E, Helbig, I, Scheffer, I E, Striano, P, Møller, R S, Gardella, E & Weckhuysen, S 2022, ' Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy into Adulthood ', Neurology, vol. 99, no. 3, pp. E221-E233 . https://doi.org/10.1212/WNL.0000000000200715
Neurology
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Neurology
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Neurology 99(3), e221-e233 (2022). doi:10.1212/WNL.0000000000200715
Published by Wolters Kluwer, Philadelphia, Pa.
Published by Wolters Kluwer, Philadelphia, Pa.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9c44c6535fedb2cdb8a42772cfe58f9
https://pure.au.dk/ws/files/330041391/NaturalHistoryStudyofSTXBP1_Developmentaland_EpilepticEncephalopathyIntoAdulthood.pdf
https://pure.au.dk/ws/files/330041391/NaturalHistoryStudyofSTXBP1_Developmentaland_EpilepticEncephalopathyIntoAdulthood.pdf
Autor:
Nadia Bahi-Buisson, Christian Korff, Koen L.I. van Gassen, Nathalie Villeneuve, Heather C Mefford, Ronit M. Pressler, Anna Kaminska, Amélie Piton, Nienke E. Verbeek, Ingrid E. Scheffer, Lynette G. Sadleir, Alexandre N. Datta, Fiona Gardiner, Anne Lépine, J. Helen Cross, Matthieu Milh, Susanne Ruf, Gaetan Lesca, Bénédicte Héron, Sarah E. Buerki, Cyrill Mignot, Thierry Bienvenu, Anne de Saint Martin, Pia Zacher, Amy McTague, Johannes R. Lemke, Dorothée Ville
Publikováno v:
Epilepsia
Objective Asparagine‐linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clinical phenotype of a developmental and epileptic encephalopathy (DEE). Most cases were females carrying the recurrent ALG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd4184951f9111f34b924a4ce083259c
https://doi.org/10.1111/epi.16761
https://doi.org/10.1111/epi.16761
Autor:
Hudson H. Freeze, Deborah A. Nickerson, Pengfei Liu, Eva Morava, Lynne A. Wolfe, Raymond Y. Wang, Dorcas Wilson, Sergey A. Shiryaev, Yin Y Dong, Janice Cousin, Michael A. Ciliberto, C. G. Asteggiano, Gabriela Magali Papazoglu, Katherine Hammond, Alice Zalan, Timothy Blake Palculict, Kimberly M Houck, Jennefer N. Kohler, Richard Webster, Ingrid E. Scheffer, William D. Graf, John Christodoulou, Bobby G. Ng, Wendy K. Chung, Colleen E. McCormack, Austin Larson, Rossana Sanchez Russo, Fiona Gardiner, Jonathan A. Bernstein, Beth A. Pletcher, Farouq Thabet, Rhonda E. Schnur, Leah J. Rowe, Yue Si, María Mercedes Villanueva, Eileen Barr, Natalie Hauser, Erik A. Eklund, Alvaro H Serrano Russi, Rebecca Miller, Stephanie Grunewald, Andrea Schenone, Allysa Tuite, Suman Ghosh, Jill A. Rosenfeld, Mary-Alice Abbott, Sujana Madathil, Lindsay Rhodes, Shabeed Chelakkadan, Michael J. Bamshad, Naomi Meeks, George E. Hoganson, Kristin G. Monaghan
Publikováno v:
J Inherit Metab Dis
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c42986284a8c479aae9968eb318dd9d3
https://doi.org/10.1002/jimd.12290
https://doi.org/10.1002/jimd.12290