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Priti Kenia

Showing results (11-20 of 17) with videos related to

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ERJ Open Research|October 15, 2025
Quality standards for paediatric bronchiectasis care in the UK, a national studySiobhán B Carr, Priti Kenia, Ross Langley, et al.
Thorax|September 1, 2018
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesiaSunayna Best, Amelia Shoemark, Bruna Rubbo, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.
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Showing results (11-20 of 17) with videos related to

Sort By:
Pageof 2
You have reached the last page of results.This site can display upto 17 results.
ERJ Open Research|October 15, 2025
Quality standards for paediatric bronchiectasis care in the UK, a national studySiobhán B Carr, Priti Kenia, Ross Langley, et al.
Thorax|September 1, 2018
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesiaSunayna Best, Amelia Shoemark, Bruna Rubbo, et al.
Journal of Medical Genetics|December 28, 2019
Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohortMahmoud R Fassad, Mitali P Patel, Amelia Shoemark, et al.
Thorax|August 10, 2017
High prevalence of <i>CCDC103</i> p.His154Pro mutation causing primary ciliary dyskinesia disrupts protein oligomerisation and is associated with normal diagnostic investigationsAmelia Shoemark, Eduardo Moya, Robert A Hirst, et al.
American Journal of Human Genetics|February 12, 2026
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
American Journal of Human Genetics|October 1, 2025
A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3BEsra Erkut, Cherith Somerville, Marci L B Schwartz, et al.
Science (New York, N.Y.)|April 25, 2024
Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubulesDaniel O Dodd, Sabrina Mechaussier, Patricia L Yeyati, et al.
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