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List of works by Nouf S Al-Numair

A novel homozygous SCN5A variant detected in sick sinus syndrome

scientific article published on 23 September 2020

Assessing the Performance of Extended Half-Life Coagulation Factor VIII, FC Fusion Protein by Using Chromogenic and One-Stage Assays in Saudi Hemophilia A Patients

scientific article published on 09 September 2020

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

scientific article published on 11 May 2019

Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome

scientific article

Correlation between genetic variation in thymine DNA glycosylase and smoking behavior

scientific article published on 08 September 2020

First description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutations

scientific article published on 01 July 2019

Identification of Novel <i>CDH23</i> Variants Causing Moderate to Profound Progressive Nonsyndromic Hearing Loss

scientific article published on 09 December 2020

Identification of TMC1 as a relatively common cause for nonsyndromic hearing loss in the Saudi population

scientific article published on 19 December 2019

Molecular yield of targeted sequencing for Glanzmann thrombasthenia patients

scientific article published on 14 February 2019

Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency

scientific article published on 9 February 2018

Novel sequence variants in the TLR6 gene associated with advanced breast cancer risk in the Saudi Arabian population

scientific article published in PLoS ONE

PHENOTYPE/ GENOTYPE SCREENING PATTERN OF HEMOPHILIA A AND B IN SAUDI ARAB

scientific article published in 2022

Potential role of Toll-like receptor 2 expression and polymorphisms in colon cancer susceptibility in the Saudi Arabian population

article published in 2018

Prevalence of Coagulation Factors Deficiency among Young Adults in Saudi Arabia: A National Survey

scientific article published on 01 October 2020

Protective effect of Cardiospermum halicacabum leaf extract on glycoprotein components on STZ–induced hyperglycemic rats ⬇️

scientific article published on 01 December 2012

The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutations

scientific article

The protective effects of the methylenetetrahydrofolate reductase rs1801131 variant among Saudi smokers

scientific article published on 13 April 2021

The role of BRCA1/2 in hereditary and familial breast and ovarian cancers

scientific article published on 17 July 2019

The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.

scientific article

Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine disease

scientific article

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