Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Angus J. Clarke"'
Autor:
Sam Amin, Marie Monaghan, Angel Aledo-Serrano, Nadia Bahi-Buisson, Richard F. Chin, Angus J. Clarke, J. Helen Cross, Scott Demarest, Orrin Devinsky, Jenny Downs, Elia M. Pestana Knight, Heather Olson, Carol-Anne Partridge, Graham Stuart, Marina Trivisano, Sameer Zuberi, Tim A. Benke
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a developmental and epileptic encephalopathy (DEE). The incidence is between ~ 1:40,000 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from in
Externí odkaz:
https://doaj.org/article/b229f548295447debb7effe4ff9a80e2
Autor:
Nicolai Peschel, John T. Wright, Maranke I. Koster, Angus J. Clarke, Gianluca Tadini, Mary Fete, Smail Hadj-Rabia, Virginia P. Sybert, Johanna Norderyd, Sigrun Maier-Wohlfart, Timothy J. Fete, Nina Pagnan, Atila F. Visinoni, Holm Schneider
Publikováno v:
Genes; Volume 13; Issue 12; Pages: 2327
To keep pace with the rapid advancements in molecular genetics and rare diseases research, we have updated the list of ectodermal dysplasias based on the latest classification approach that was adopted in 2017 by an international panel of experts. Fo
Autor:
Jerry Vockley, Nicola Brunetti-Pierri, Wendy K. Chung, Angus J. Clarke, Nina Gold, Robert C. Green, Stephen Kagan, Tara Moroz, Christian P. Schaaf, Martin Schulz, Elfride De Baere
Publikováno v:
Genetics in Medicine. :100903
Autor:
Jerry Vockley, Nicola Brunetti-Pierri, Wendy K. Chung, Angus J. Clarke, Nina Gold, Robert C. Green, Stephen Kagan, Tara Moroz, Christian P. Schaaf, Martin Schulz, Elfride De Baere
Publikováno v:
Genetics in Medicine. 25:100022
By 2030, it is estimated that at least 30 non-oncology gene therapies will be approved in the United States alone. These therapies could be used to treat up to 50,000 patients annually and have the potential to result in major shifts in disease manag
Autor:
Marcel E. Dinger, Spiridoula Kraitsek, Timothy K. Khoo, Michael Boyer, Kate L. Mahon, Carsten E. Palme, Bing Yu, Joel Smith, Jonathan R. Clark, Angus J. Clarke, Sandra A O'Toole, Christina I. Selinger, Peter P. Luk, Ruta Gupta, Mark J. Cowley
Publikováno v:
Oncotarget
// Timothy K. Khoo 1, * , Bing Yu 1, 2, * , Joel A. Smith 3 , Angus J. Clarke 1 , Peter P. Luk 4 , Christina I. Selinger 4 , Kate L. Mahon 1, 5 , Spiridoula Kraitsek 2 , Carsten Palme 1, 3 , Michael J. Boyer 1, 5 , Marcel E. Dinger 6 , Mark J. Cowley
Autor:
Daniele, Carrieri, Sandi, Dheensa, Shane, Doheny, Angus J, Clarke, Peter D, Turnpenny, Anneke M, Lucassen, Susan E, Kelly
Publikováno v:
European Journal of Human Genetics
This paper explores the views and expectations of patients concerning recontacting in clinical practice. It is based on 41 semi-structured interviews conducted in the United Kingdom. The sample comprised patients or parents of patients: without a dia
Publikováno v:
Bioethics. 29(1)
Non-invasive prenatal testing (NIPT) is an emerging form of prenatal genetic testing that provides information about the genetic constitution of a foetus without the risk of pregnancy loss as a direct result of the test procedure. As with other prena
Autor:
Ruta Gupta, Joel Smith, Timothy K. Khoo, Marcel E. Dinger, Spiridoula Kraitsek, Kate L. Mahon, Jonathan R. Clark, Michael Boyer, Mark J. Cowley, Angus J. Clarke, Carsten E. Palme, Peter P. Luk, Bing Yu, Sandra A O'Toole, Christina I. Selinger
Publikováno v:
Pathology. 49:S105
// Timothy K. Khoo 1, * , Bing Yu 1, 2, * , Joel A. Smith 3 , Angus J. Clarke 1 , Peter P. Luk 4 , Christina I. Selinger 4 , Kate L. Mahon 1, 5 , Spiridoula Kraitsek 2 , Carsten Palme 1, 3 , Michael J. Boyer 1, 5 , Marcel E. Dinger 6 , Mark J. Cowley
Publikováno v:
The Medical journal of Australia. 182(3)
Objectives: To assess whether healthcare professionals correctly incorporate the relevance of a favourable test outcome in a close relative when determining the level of risk for individuals at risk for Huntington’s disease. Design and setting: Sur