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Christopher O'Callaghan

Showing results (81-90 of 99) with videos related to

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Journal for Immunotherapy of Cancer|December 4, 2024
Plasma arginine as a predictive biomarker for outcomes with immune checkpoint inhibition in metastatic colorectal cancer: a correlative analysis of the CCTG CO.26 trialLucy X Ma, Emma Titmuss, Jonathan M Loree, et al.
The European Respiratory Journal|April 2, 2021
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaDani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, et al.
Human Molecular Genetics|February 13, 2014
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defectsAlexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, et al.
Frontiers in Genetics|August 25, 2022
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of BronchiectasisJeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 2, 2024
Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosaChun Hang Lau, Maral J Rouhani, Elizabeth F Maughan, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Nature Communications|July 23, 2014
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile ciliaMieke Boon, Julia Wallmeier, Lina Ma, et al.
Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.
American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
Pageof 10

Showing results (81-90 of 99) with videos related to

Sort By:
Pageof 10
Journal for Immunotherapy of Cancer|December 4, 2024
Plasma arginine as a predictive biomarker for outcomes with immune checkpoint inhibition in metastatic colorectal cancer: a correlative analysis of the CCTG CO.26 trialLucy X Ma, Emma Titmuss, Jonathan M Loree, et al.
The European Respiratory Journal|April 2, 2021
Higher throughput drug screening for rare respiratory diseases: readthrough therapy in primary ciliary dyskinesiaDani Do Hyang Lee, Daniela Cardinale, Ersilia Nigro, et al.
Human Molecular Genetics|February 13, 2014
Targeted NGS gene panel identifies mutations in RSPH1 causing primary ciliary dyskinesia and a common mechanism for ciliary central pair agenesis due to radial spoke defectsAlexandros Onoufriadis, Amelia Shoemark, Miriam Schmidts, et al.
Frontiers in Genetics|August 25, 2022
Functional Evaluation and Genetic Landscape of Children and Young Adults Referred for Assessment of BronchiectasisJeffrey Fong Ting Chau, Mianne Lee, Martin Man Chun Chui, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|March 2, 2024
Lentiviral expression of wild-type LAMA3A restores cell adhesion in airway basal cells from children with epidermolysis bullosaChun Hang Lau, Maral J Rouhani, Elizabeth F Maughan, et al.
Scientific Reports|October 19, 2021
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disordersCharlie Rowlands, Huw B Thomas, Jenny Lord, et al.
Nature Communications|July 23, 2014
MCIDAS mutations result in a mucociliary clearance disorder with reduced generation of multiple motile ciliaMieke Boon, Julia Wallmeier, Lina Ma, et al.
Ebiomedicine|August 29, 2021
Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanismWai-Yee Lam, Clara Sze-Man Tang, Man-Ting So, et al.
American Journal of Human Genetics|February 10, 2009
Mutations in radial spoke head protein genes RSPH9 and RSPH4A cause primary ciliary dyskinesia with central-microtubular-pair abnormalitiesVictoria H Castleman, Leila Romio, Rahul Chodhari, et al.
American Journal of Human Genetics|November 26, 2018
Mutations in Outer Dynein Arm Heavy Chain DNAH9 Cause Motile Cilia Defects and Situs InversusMahmoud R Fassad, Amelia Shoemark, Marie Legendre, et al.
Pageof 10