IR
Ilham Ratbi

Publications (7)

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
Article scientifique · 2024
Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature
Article scientifique · 2022
Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report
Article scientifique · 2021
Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
Article scientifique · 2019
Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report
Article scientifique · 2018
High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control
Article scientifique · 2017
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
Article scientifique · 2017

Domaines principaux

Sciences de la vie et biotechnologies4 Sciences de la santé3

Statistiques

Consultations27
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