SA
Sonia Abdelhak

Publications (38)

Precision Medicine of Rare Genetic Diseases in Africa
Article scientifique · 2025
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Article scientifique · 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Article scientifique · 2024
Ethnic and functional differentiation of copy number polymorphisms in Tunisian and HapMap population unveils insights on genome organizational plasticity
Article scientifique · 2024
Prevalence and risk factors of diabetes mellitus and hypertension in North East Tunisia calling for efficient and effective actions
Article scientifique · 2023
Association between epidemiological and clinico-pathological features of breast cancer with prognosis, family history, Ki-67 proliferation index and survival in Tunisian breast cancer patients
Article scientifique · 2022
Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population
Article scientifique · 2022
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
Article scientifique · 2022
Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case–control study in the Tunisian population and a meta-analysis
Article scientifique · 2022
Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
Article scientifique · 2021
Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis
Article scientifique · 2021
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report
Article scientifique · 2021
A rare MSH2 variant as a candidate marker for Lynch Syndrome II screening in Tunisia: A case of Diffuse Gastric Carcinoma
Article scientifique · 2021
Identification of BRCA2 Cis Double Heterozygous Breast Cancer Cases Using Whole Exome Sequencing: Phenotypic Expression and Impact on Personalized Oncology
Article scientifique · 2021
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
Article scientifique · 2021
Distribution of HCV Genotypes Among People Who Inject Drugs in Tunisia: New Evidence for Scaling Up Prevention and Treatment Toward National Elimination Goal
Article scientifique · 2021
Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
Article scientifique · 2021
Case Report: Identification of Novel Variants in ERCC4 and DDB2 Genes in Two Tunisian Patients With Atypical Xeroderma Pigmentosum Phenotype
Article scientifique · 2021
Cancer in Africa: The Untold Story
Article scientifique · 2021
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
Article scientifique · 2021

20 publications les plus récentes affichées.

Domaines principaux

Sciences de la vie et biotechnologies25 Sciences de la santé12 Sciences agricoles, animales et alimentaires1

Statistiques

Consultations89
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