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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafnessA human homologue of the Drosophila eyes absent gene underlies branchio-oto-renal (BOR) syndrome and identifies a novel gene familyGenetic and mutational heterogeneity of autosomal recessive chronic granulomatous disease in TunisiaSystems medicine and integrated care to combat chronic noncommunicable diseases.Immunohistological study of involucrin expression in Darier's disease skin.Adult Gaucher disease in southern Tunisia: report of three casesHigh frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.Identification of a primarily neurological phenotypic expression of xeroderma pigmentosum complementation group A in a Tunisian family.Genetic homogeneity of mutational spectrum of group-A xeroderma pigmentosum in Tunisian patients.A founder large deletion mutation in Xeroderma pigmentosum-Variant form in Tunisia: implication for molecular diagnosis and therapyEvidence for association of the E23K variant of KCNJ11 gene with type 2 diabetes in Tunisian population: population-based study and meta-analysisSevere phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.Molecular investigation of distal renal tubular acidosis in Tunisia, evidence for founder mutationsc.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.Mutational spectrum of Xeroderma pigmentosum group A in Egyptian patients.Whole exome sequencing identifies mutations in Usher syndrome genes in profoundly deaf Tunisian patientsGenome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians.Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East.Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.Consanguinity, endogamy, and genetic disorders in Tunisia.Familial aggregation and excess maternal transmission of type 2 diabetes in Tunisia.Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.Specific aspects of consanguinity: some examples from the Tunisian population.Application of Multi-SOM clustering approach to macrophage gene expression analysis.Chromosomal evaluation in a group of Tunisian patients with non-obstructive azoospermia and severe oligozoospermia attending a Tunisian cytogenetic department.Lack of association between the angiotensin-converting enzyme gene (I/D) polymorphism and diabetic nephropathy in Tunisian type 2 diabetic patients.Mutation spectrum of glycogen storage disease type Ia in Tunisia: implication for molecular diagnosis.The first Mal de Meleda case in Libya: identification of a SLURP1 mutation.Clinical and mutational heterogeneity of Darier disease in Tunisian families.Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.Differential impact of consanguineous marriages on autosomal recessive diseases in Tunisia.Determination of arylsulfatase A pseudodeficiency allele and haplotype frequency in the Tunisian population.Estimation of Recent and Ancient Inbreeding in a Small Endogamous Tunisian Community Through Genomic Runs of Homozygosity.A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.Bathing suit ichthyosis caused by a TGM1 mutation in a Tunisian child.Hailey-Hailey disease in Tunisia.Maternal effect and familial aggregation in a type 2 diabetic Moroccan population.Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.CYP1B1 gene mutations causing primary congenital glaucoma in Tunisia.
P50
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P50
description
hulumtuese
@sq
onderzoeker
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researcher
@en
հետազոտող
@hy
name
Sonia Abdelhak
@ast
Sonia Abdelhak
@en
Sonia Abdelhak
@es
Sonia Abdelhak
@nl
Sonia Abdelhak
@sl
type
label
Sonia Abdelhak
@ast
Sonia Abdelhak
@en
Sonia Abdelhak
@es
Sonia Abdelhak
@nl
Sonia Abdelhak
@sl
prefLabel
Sonia Abdelhak
@ast
Sonia Abdelhak
@en
Sonia Abdelhak
@es
Sonia Abdelhak
@nl
Sonia Abdelhak
@sl
P1053
L-2831-2013
P106
P1153
6603711657
P21
P31
P3829
P496
0000-0001-8466-5525