about
ILDR1: Novel mutation and a rare cause of congenital deafness in the Saudi Arabian population.Analysis of shared homozygosity regions in Saudi siblings with attention deficit hyperactivity disorder.Twenty novel mutations in BCKDHA, BCKDHB and DBT genes in a cohort of 52 Saudi Arabian patients with maple syrup urine diseaseA new susceptibility locus for myocardial infarction, hypertension, type 2 diabetes mellitus, and dyslipidemia on chromosome 12q24Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi familiesLack of KIF21A mutations in congenital fibrosis of the extraocular muscles type I patients from consanguineous Saudi Arabian families.Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency.Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorderHomozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.Parkinson's Disease in Saudi Patients: A Genetic StudyClinical heterogeneity of PLA2G6-related Parkinsonism: analysis of two Saudi familiesTP53 genetic alterations in Arab breast cancer patients: Novel mutations, pattern and distributionA study of the role of GATA4 polymorphism in cardiovascular metabolic disorders.Clinical genomics can facilitate countrywide estimation of autosomal recessive disease burden.Characterizing the morbid genome of ciliopathies.DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia.Exotropic Duane syndrome with synergistic divergence and no mutations in COL25A1.Homozygosity analysis in subjects with autistic spectrum disorder.Prolonged pursuit by optokinetic drum testing in asymptomatic female carriers of novel FRMD7 splice mutation c.1050 +5 G>A.Different combinations of biallelic APC mutation confer different growth advantages in colorectal tumours.Expanding the phenome and variome of skeletal dysplasia.Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases.The optic nerve head in congenital fibrosis of the extraocular muscles.Germline Mosaicism for KIF21A Mutation (p.R954L) Mimicking Recessive Inheritance for Congenital Fibrosis of the Extraocular Muscles.Mutations in KIF21A and PHOX2A are absent in 16 patients with congenital vertical incomitant strabismus.A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia.Inherited variants in MYH are unlikely to contribute to the risk of lung carcinoma.Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.Rare variant associated with Li-Fraumeni syndrome exhibits variable penetrance in a Saudi familyAssociation analyses identify 31 new risk loci for colorectal cancer susceptibilityIntegrated Analysis of Whole Exome Sequencing and Copy Number Evaluation in Parkinson's DiseaseEstimating transfection efficiency in differentiated and undifferentiated neural cellsMolecular yield of targeted sequencing for Glanzmann thrombasthenia patientsScreening for hOGG1 S326C variant in normal Saudi populationBilateral synergistic convergence associated with homozygous ROB03 mutation (p.Pro771Leu)Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritisA study of the role of GATA2 gene polymorphism in coronary artery disease risk traitsThe many faces of peroxisomal disorders: Lessons from a large Arab cohortGenetic Study of Alzheimer's Disease in Saudi PopulationPattern Recognition Receptor Polymorphisms as Predictors of Oxaliplatin Benefit in Colorectal Cancer
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Nada Al Tassan
@en
Nada Al Tassan
@es
Nada Al Tassan
@nl
Nada Al Tassan
@sl
type
label
Nada Al Tassan
@en
Nada Al Tassan
@es
Nada Al Tassan
@nl
Nada Al Tassan
@sl
prefLabel
Nada Al Tassan
@en
Nada Al Tassan
@es
Nada Al Tassan
@nl
Nada Al Tassan
@sl
P106
P31
P496
0000-0001-9076-0334