Zobrazeno 1 - 10
of 263
pro vyhledávání: '"B. Waddell"'
Autor:
R. Reed, K. Park, B. Waddell, T. A. Timbers, C. Li, K. Baxi, R. M. Giacomin, M. R. Leroux, C. E. Carvalho
Publikováno v:
Scientific Reports, Vol 13, Iss 1, Pp 1-13 (2023)
Abstract The conserved Shugoshin (SGO) protein family is essential for mediating proper chromosome segregation from yeast to humans but has also been implicated in diverse roles outside of the nucleus. SGO’s roles include inhibiting incorrect spind
Externí odkaz:
https://doaj.org/article/946c8034e26b4f60ba53c36e9f4b1dd2
Autor:
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
Publikováno v:
HGG Advances, Vol 3, Iss 4, Pp 100125- (2022)
Summary: Predicting the pathogenicity of acceptor splice-site variants outside the essential AG is challenging, due to high sequence diversity of the extended splice-site region. Critical analysis of 24,445 intronic extended acceptor splice-site vari
Externí odkaz:
https://doaj.org/article/76678012928846aab85efe76939ccff1
Autor:
Samantha J. Bryen, Katharine Zhang, Gregory Dziaduch, Shobhana Bommireddipalli, Take Naseri, Muagututi'a Sefuiva Reupena, Satupa'itea Viali, Ryan L. Minster, Leigh B. Waddell, Amanda Charlton, Gina L. O'Grady, Frances J. Evesson, Sandra T. Cooper
Publikováno v:
Clinical Genetics. 103:553-559
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7aa703691d154ecd43ad01baf24d9f97
https://doi.org/10.1111/cge.14311
https://doi.org/10.1111/cge.14311
Autor:
Wui-Kwan Wong, Samantha J Bryen, Adam Bournazos, Joe Yasa, Frances Lemckert, Shobhana Bommireddipall, Leigh B Waddell, Manoj P Menezes, Richard Webster, Mark Davis, Christina Liang, Sandra T Cooper, Kristi J Jones
Publikováno v:
Neuromuscular Disorders. 32:707-717
Paediatric hyperCKaemia without weakness presents a clinical conundrum. Invasive investigations with low diagnostic yields, including muscle biopsy, may be considered unjustifiable. Improved access to genome-wide genetic testing has shifted first-lin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb9d2eb6b9afd2484e083d3aee8dbc5
https://doi.org/10.1016/j.nmd.2022.07.401
https://doi.org/10.1016/j.nmd.2022.07.401
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Frances J Evesson, Gregory Dziaduch, Samantha J Bryen, Francesca Moore, Sara Pittman, Beena Devanapalli, Leigh B Waddell, Monique M Ryan, Manoj P Menezes, Conrad C Weihl, Adviye Ayper Tolun, Craig Zaidman, Helen Young, Lesley C Adès, Sandra T Cooper
Publikováno v:
Human Molecular Genetics.
Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected individuals from 15 families. Here, we describe two female probands from unrelated families presenting with features of a congenital connective tissue di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba5e43859f75adcb080dbbfc3fc96c51
https://doi.org/10.1093/hmg/ddad035
https://doi.org/10.1093/hmg/ddad035
Autor:
Matthew Katz, Leigh B. Waddell, Michaela Yuen, Samantha J. Bryen, Emily Oates, Fleur C. Garton, Thomas Robertson, Robert David Henderson, Sandra T. Cooper, Pamela A. McCombe
Publikováno v:
Frontiers in Neurology. 14
Recessive pathogenic variants in the laminin subunit alpha 2 (LAMA2) gene cause a spectrum of disease ranging from severe congenital muscular dystrophy to later-onset limb girdle muscular dystrophy (LGMDR23). The phenotype of LGMDR23 is characterized
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb14d416509ba945691b89b104387b97
Autor:
R. Reed, K. Park, B. Waddell, T. Timbers, C. Li, K. Baxi, R. M. Giacomin, M. R. Leroux, C. E. Carvalho
The conserved Shugoshin (SGO) protein family has essential roles in mediating proper chromosome segregation from yeast to humans. SGO proteins have been implicated in diverse roles in and out of the nucleus; SGO activity inhibits incorrect spindle at
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0a460b068d5acc155c18658ec068cbb6
https://doi.org/10.21203/rs.3.rs-2327706/v1
https://doi.org/10.21203/rs.3.rs-2327706/v1
Autor:
J. Hollman, N. Acosta, M. Bautista, J. McCalder, L. Man, A. Buchner Beaudet, B. Waddell, J. Chen, D. Kuzma, R. G. Clark, N. Ruecker, K. Frankowski, C. Hubert, M. Parkins, M. C. Ryan, G. Achari
Publikováno v:
Lecture Notes in Civil Engineering ISBN: 9789811910609
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e2620754ceaac74faa709c18a86de5fc
https://doi.org/10.1007/978-981-19-1061-6_47
https://doi.org/10.1007/978-981-19-1061-6_47
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.