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عدد الأبحاث المنشورة

10 عدد الأبحاث المنشورة

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

Wiley Publishing Asia Pty Ltd 2022
الملخص

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

Frontiers 2022
الملخص

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

Emory University 2022
الملخص

New missense variants in RELT causing hypomineralised amelogenesis imperfecta

Blackwell Publishing Ltd 2020
البحث الكامل الملخص

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

Elsevier 2019
الملخص

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

1-16 2018
الملخص

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

Nature Portfolio 2018
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Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

2017
الملخص

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

2017
الملخص

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

! 2016 Wiley Periodicals, Inc. 2016
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