Priti Kenia

Birmingham, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 16 publications

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: February 12, 2026

Pediatric Bronchiectasis Quality-of-Life Questionnaire-What Does the Literature Say?

Pediatric Bronchiectasis Quality-of-Life Questionnaire-What Does the Literature Say?

Journal: Pediatric pulmonology

Published: September 25, 2025

Pediatric Bronchiectasis Quality-of-Life Questionnaire-What Does the Literature Say?

Pediatric Bronchiectasis Quality-of-Life Questionnaire-What Does the Literature Say?

Journal: Pediatric pulmonology

Published: September 25, 2025

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B.

Journal: American journal of human genetics

Published: April 07, 2025

Primary ciliary dyskinesia: a national expert consensus statement on standards of care.

Primary ciliary dyskinesia: a national expert consensus statement on standards of care.

Journal: ERJ open research

Published: April 04, 2025

Quality standards for paediatric bronchiectasis care in the UK, a national study.

Quality standards for paediatric bronchiectasis care in the UK, a national study.

Journal: ERJ open research

Published: March 31, 2025

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Ciliopathy patient variants reveal organelle-specific functions for TUBB4B in axonemal microtubules.

Journal: Science (New York, N.Y.)

Published: April 25, 2024

Paediatric and adolescent asthma: A narrative review of telemedicine and emerging technologies for the post-COVID-19 era.

Paediatric and adolescent asthma: A narrative review of telemedicine and emerging technologies for the post-COVID-19 era.

Journal: Clinical and experimental allergy : journal of the British Society for Allergy and Clinical Immunology

Published: October 02, 2020

Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion.

Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion.

Journal: Pediatric pulmonology

Published: August 03, 2020

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Hydrocephalus and diffuse choroid plexus hyperplasia in primary ciliary dyskinesia-related MCIDAS mutation.

Journal: Neurology. Genetics

Published: April 11, 2020

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Clinical utility of NGS diagnosis and disease stratification in a multiethnic primary ciliary dyskinesia cohort.

Journal: Journal of medical genetics

Published: August 13, 2019

Clinical features and management of children with primary ciliary dyskinesia in England.

Clinical features and management of children with primary ciliary dyskinesia in England.

Journal: Archives of disease in childhood

Published: June 14, 2019

Showing 1-12 of 16

Last Updated: 09/26/2026