Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Conor I. MacKay"'
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss 1 (2021)
Aim To characterise the epidemiology, clinical features and treatment of paediatric cellulitis.Methods A retrospective study of children presenting to a paediatric tertiary hospital in Western Australia, Australia in 2018. All inpatient records from
Externí odkaz:
https://doaj.org/article/1a29788e06014e48a85b63bd4d07d862
Autor:
Ivan Muñoz, Helen Leonard, John Rouse, Jeremy W. Prokop, Jenny Downs, David P. Bick, Conor I. MacKay
Publikováno v:
American Journal of Medical Genetics Part A. 182:1217-1222
Pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene cause the neurodevelopmental disorder, the CDKL5 deficiency disorder. Reports of individuals with pathogenic variants in CDKL5 without seizures are exceedingly rare, and in-depth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b8433820261f3b98e6b98a64ddc09ad8
https://doi.org/10.1002/ajmg.a.61504
https://doi.org/10.1002/ajmg.a.61504
Publikováno v:
Clinical geneticsREFERENCES. 99(1)
Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype rel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61dd02b1a1ab57e548a7ee483272669e
https://pubmed.ncbi.nlm.nih.gov/33047306
https://pubmed.ncbi.nlm.nih.gov/33047306
Publikováno v:
BMJ Paediatrics Open, Vol 5, Iss 1 (2021)
BMJ Paediatrics Open
BMJ Paediatrics Open
AimTo characterise the epidemiology, clinical features and treatment of paediatric cellulitis.MethodsA retrospective study of children presenting to a paediatric tertiary hospital in Western Australia, Australia in 2018. All inpatient records from 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2031d9e84eb719a21a5921a9bb355d4
https://doi.org/10.1136/bmjpo-2021-001130
https://doi.org/10.1136/bmjpo-2021-001130
Autor:
Aleisha J Anderson, Anita J. Campbell, Asha C. Bowen, Lana Bell, Matthew J. O’Brien, Conor I. MacKay
Publikováno v:
Journal of paediatrics and child health. 55(6)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c338a408beae226b7b119e0e3e7764a2
https://pubmed.ncbi.nlm.nih.gov/31155797
https://pubmed.ncbi.nlm.nih.gov/31155797
Publikováno v:
Current Opinion in Infectious Diseases; Jun2024, Vol. 37 Issue 3, p220-225, 6p
Publikováno v:
Clinical Trials Week; 7/4/2024, p626-626, 1p
Autor:
MacKay, Conor I., Wong, Kingsley, Demarest, Scott T., Benke, Tim A., Downs, Jenny, Leonard, Helen
Publikováno v:
Clinical Genetics; Jan2021, Vol. 99 Issue 1, p157-165, 9p
Autor:
MacKay, Conor I., Bick, David, Prokop, Jeremy W., Muñoz, Ivan, Rouse, John, Downs, Jenny, Leonard, Helen
Publikováno v:
American Journal of Medical Genetics. Part A; May2020, Vol. 182 Issue 5, p1217-1222, 6p