Výsledky vyhledávání - "Conor I. MacKay"

Akademický článek

Cellulitis in children: a retrospective single centre study from Australia

Autor: Barbara King, Asha C Bowen, Elise Salleo, Conor I MacKay, Jeffrey Cannon

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

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Expanding the phenotype of the CDKL5 deficiency disorder: Are seizures mandatory?

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

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Author response for 'Exploring genotype‐phenotype relationships in the CDKL5 deficiency disorder using an international dataset'

Autor: null Conor I. MacKay, null Kingsley Wong, null Scott T. Demarest, null Tim A. Benke, null Jenny Downs, null Helen Leonard

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05a89bb1e7ced00d4a35dcfa387c102
https://doi.org/10.1111/cge.13862/v3/response1

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Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset

Autor: Conor I. MacKay, Jenny Downs, Kingsley Wong, Helen Leonard, Tim A. Benke, Scott Demarest

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

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Cellulitis in children: a retrospective single centre study from Australia

Autor: Elise Salleo, Asha C. Bowen, Conor I. MacKay, Barbara King, Jeffrey Cannon

Publikováno v: BMJ Paediatrics Open, Vol 5, Iss 1 (2021)
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

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Purulent and crusted scalp lesions in an infant

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

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