Naz Khan
St Mary's Hospital
Manchester, ENG, United Kingdom
Manchester, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 9 publications
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.
Journal: The Lancet. Neurology
Published: January 07, 2025
جِین(Gene): A Co-Designed Smartphone App for Genetics Education and Empowerment in the Pakistani Community.
Journal: Studies in health technology and informatics
Published: July 25, 2024
Large-scale evaluation of outcomes after a genetic diagnosis in children with severe developmental disorders.
Journal: Genetics in medicine open
Published: November 14, 2023
Digital interventions for genomics and genetics education, empowerment, and service engagement: A systematic review.
Journal: Journal of community genetics
Published: February 15, 2023
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Journal: American journal of human genetics
Published: December 03, 2021
Patient-facing genetic and genomic mobile apps in the UK: a systematic review of content, functionality, and quality.
Journal: Journal of community genetics
Published: October 19, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Journal: American journal of human genetics
Published: January 23, 2021
ERBB4 exonic deletions on chromosome 2q34 in patients with intellectual disability or epilepsy.
Journal: European journal of human genetics : EJHG
Published: July 28, 2020
Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations.
Journal: European journal of medical genetics
Published: April 22, 2020
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Last Updated: 09/26/2026