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Deirdre Donnelly

Showing results (1-10 of 14) with videos related to

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BMJ Open Respiratory Research|June 11, 2019
'Dry' and 'wet' cough: how reliable is parental reporting?Deirdre Donnelly, Mark L Everard
Thorax|November 16, 2006
Outcomes in children treated for persistent bacterial bronchitisDeirdre Donnelly, Anita Critchlow, Mark L Everard
Cardiology in the Young|January 30, 2025
PPA2-associated cardiac arrest survivorClaire McGinn, Rihab Agouba, Siobhan O'Sullivan, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Towards establishing consistency in triage in a tertiary specialtyTerri Patricia McVeigh, Deirdre Donnelly, Maryam Al Shehhi, et al.
European Journal of Human Genetics : EJHG|July 5, 2023
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylomeSunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
American Journal of Human Genetics|August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
BMJ Open Respiratory Research|June 11, 2019
'Dry' and 'wet' cough: how reliable is parental reporting?Deirdre Donnelly, Mark L Everard
Thorax|November 16, 2006
Outcomes in children treated for persistent bacterial bronchitisDeirdre Donnelly, Anita Critchlow, Mark L Everard
Cardiology in the Young|January 30, 2025
PPA2-associated cardiac arrest survivorClaire McGinn, Rihab Agouba, Siobhan O'Sullivan, et al.
European Journal of Human Genetics : EJHG|January 10, 2019
Towards establishing consistency in triage in a tertiary specialtyTerri Patricia McVeigh, Deirdre Donnelly, Maryam Al Shehhi, et al.
European Journal of Human Genetics : EJHG|July 5, 2023
Germline pathogenic variants in HNRNPU are associated with alterations in blood methylomeSunwoo Lee, Eguzkine Ochoa, Magdalena Badura-Stronka, et al.
Investigative Ophthalmology & Visual Science|January 28, 2017
Novel PEX11B Mutations Extend the Peroxisome Biogenesis Disorder 14B Phenotypic Spectrum and Underscore Congenital Cataract as an Early FeatureRachel L Taylor, Mark T Handley, Sarah Waller, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2020
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathyDavid A Parry, Carol-Anne Martin, Philip Greene, et al.
HGG Advances|April 3, 2023
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of <i>TSPEAR</i>-related autosomal recessive ectodermal dysplasia 14Adam Jackson, Sheng-Jia Lin, Elizabeth A Jones, et al.
Medrxiv : the Preprint Server for Health Sciences|September 16, 2024
Mutations in the U2 snRNA gene <i>RNU2-2P</i> cause a severe neurodevelopmental disorder with prominent epilepsyDaniel Greene, Koenraad De Wispelaere, Jon Lees, et al.
American Journal of Human Genetics|August 21, 2024
Deleterious ZNRF3 germline variants cause neurodevelopmental disorders with mirror brain phenotypes via domain-specific effects on Wnt/β-catenin signalingParanchai Boonsawat, Reza Asadollahi, Dunja Niedrist, et al.
Pageof 2