about
The SAAP pipeline and database: tools to analyze the impact and predict the pathogenicity of mutationsTwenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine diseaseThe structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.Novel CARMIL2 Mutations in Patients with Variable Clinical Dermatitis, Infections, and Combined Immunodeficiency.Potential role of Toll-like receptor 2 expression and polymorphisms in colon cancer susceptibility in the Saudi Arabian populationMolecular yield of targeted sequencing for Glanzmann thrombasthenia patientsFirst description of the molecular and clinical characterization of hereditary factor V deficiency in Saudi Arabia: report of four novel mutationsBialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian familiesThe role of BRCA1/2 in hereditary and familial breast and ovarian cancers
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P50
description
researcher ORCID ID = 0000-0002-2729-856X
@en
name
Nouf S Al-Numair
@ast
Nouf S Al-Numair
@en
Nouf S Al-Numair
@nl
type
label
Nouf S Al-Numair
@ast
Nouf S Al-Numair
@en
Nouf S Al-Numair
@nl
prefLabel
Nouf S Al-Numair
@ast
Nouf S Al-Numair
@en
Nouf S Al-Numair
@nl
P108
P31
P496
0000-0002-2729-856X