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Number of Publications

10 Number of Publications

Meta‐analysis of the demographic and prognostic significance of gastrointestinal symptoms in COVID‐19 patients

Wiley Publishing Asia Pty Ltd 2022
Abstract

Patient derived organoids confirm that PI3K/AKT signalling is an escape pathway for radioresistance and a target for therapy in rectal cancer

Frontiers 2022
Abstract

Novel homozygous mutations in the transcription factor NRL cause non-syndromic retinitis pigmentosa

Emory University 2022
Abstract

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Blackwell Publishing Ltd 2020
Full Paper Abstract

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss

Elsevier 2019
Abstract

Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes

1-16 2018
Abstract

The ciliary Frizzled-like receptor Tmem67 regulates canonical Wnt/β-catenin signalling in the developing cerebellum via Hoxb5

Nature Portfolio 2018
Full Paper Abstract

Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

2017
Abstract

Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

2017
Abstract

Homozygous Single Base Deletion in TUSC3 Causes Intellectual Disability with Developmental Delay in an Omani Family

! 2016 Wiley Periodicals, Inc. 2016
Abstract