RM
Ridha Mrad

Publications (12)

Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy: QARS1 new variants associated with a severe phenotype in a patient
Article scientifique · 2024
Corrigendum: Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Erratum · 2024
Current phenotypic and genetic spectrum of syndromic deafness in Tunisia: paving the way for precision auditory health
Article scientifique · 2024
Li–Fraumeni syndrome in Tunisian carriers with different and rare tumor phenotype: genotype–phenotype correlation
Article scientifique · 2022
Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations
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
Identification of Eleven Novel BRCA Mutations in Tunisia: Impact on the Clinical Management of BRCA Related Cancers
Article scientifique · 2021
Heterogeneous clinical features in Cockayne syndrome-A patients with the same mutation and in siblings
Article scientifique · 2021
Identification of Novel BRCA1 and RAD50 Mutations Associated With Breast Cancer Predisposition in Tunisian Patients
Article scientifique · 2020
Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk
Article scientifique · 2020
A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide withRAF1S259Y neomutation
Article scientifique · 2019
Family specific genetic predisposition to breast cancer: results from Tunisian whole exome sequenced breast cancer cases
Article scientifique · 2018

Domaines principaux

Sciences de la vie et biotechnologies8 Sciences de la santé4

Statistiques

Consultations31
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