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Gabrielle Wheway

Showing results (31-40 of 52) with videos related to

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Human Molecular Genetics|November 13, 2024
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysisJelmer Legebeke, Gabrielle Wheway, Lee Baker, et al.
BMC Medical Genomics|September 24, 2021
Whole genome sequencing in the diagnosis of primary ciliary dyskinesiaGabrielle Wheway, N Simon Thomas, Mary Carroll, et al.
Journal of Cell Science|November 8, 2015
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesisGisela G Slaats, Gabrielle Wheway, Veronica Foletto, et al.
Human Molecular Genetics|November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesisMatthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Journal of Medical Genetics|October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes ProjectSunayna Best, Jenny Lord, Matthew Roche, et al.
Genome Medicine|February 26, 2021
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephalyWilliam L Macken, Annie Godwin, Gabrielle Wheway, et al.
Journal of Medical Genetics|June 28, 2022
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approachSunayna Best, Jing Yu, Jenny Lord, et al.
American Journal of Human Genetics|June 8, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndromeVardha Ismail, Linda G Zachariassen, Annie Godwin, et al.
Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.
Frontiers in Immunology|June 6, 2022
Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19Jelmer Legebeke, Jenny Lord, Rebekah Penrice-Randal, et al.
Pageof 6

Showing results (31-40 of 52) with videos related to

Sort By:
Pageof 6
Human Molecular Genetics|November 13, 2024
Uplift of genetic diagnosis of rare respiratory disease using airway epithelium transcriptome analysisJelmer Legebeke, Gabrielle Wheway, Lee Baker, et al.
BMC Medical Genomics|September 24, 2021
Whole genome sequencing in the diagnosis of primary ciliary dyskinesiaGabrielle Wheway, N Simon Thomas, Mary Carroll, et al.
Journal of Cell Science|November 8, 2015
Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesisGisela G Slaats, Gabrielle Wheway, Veronica Foletto, et al.
Human Molecular Genetics|November 29, 2011
A meckelin-filamin A interaction mediates ciliogenesisMatthew Adams, Roslyn J Simms, Zakia Abdelhamed, et al.
Journal of Medical Genetics|October 30, 2021
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes ProjectSunayna Best, Jenny Lord, Matthew Roche, et al.
Genome Medicine|February 26, 2021
Biallelic variants in COPB1 cause a novel, severe intellectual disability syndrome with cataracts and variable microcephalyWilliam L Macken, Annie Godwin, Gabrielle Wheway, et al.
Journal of Medical Genetics|June 28, 2022
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approachSunayna Best, Jing Yu, Jenny Lord, et al.
American Journal of Human Genetics|June 8, 2022
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndromeVardha Ismail, Linda G Zachariassen, Annie Godwin, et al.
Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.
Frontiers in Immunology|June 6, 2022
Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19Jelmer Legebeke, Jenny Lord, Rebekah Penrice-Randal, et al.
Pageof 6