AS
Abdelaziz Sefiani

Publications (28)

A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature
Article scientifique · 2024
Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report
Article scientifique · 2023
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
Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem
Article scientifique · 2022
15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review
Article scientifique · 2021
M-line TTN Mutations in Salih Myopathy: Novel Biallelic Mutation and Review of the Literature
Article scientifique · 2021
16S Metagenomics investigation of Bacterial diversity and prediction of its functionalities in Moroccan phosphate mine ecosystem.
Article scientifique · 2021
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
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
Article scientifique · 2021
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
Article scientifique · 2020
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report
Article scientifique · 2020
15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review
Article scientifique · 2020
Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy
Article scientifique · 2020
Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series
Article scientifique · 2019
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
A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report
Article scientifique · 2018
Clinical and molecular report of c.1331 + 1G > A mutation of the AAAS gene in a Moroccan family with Allgrove syndrome: a case report
Article scientifique · 2018
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Erratum · 2018
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Article scientifique · 2018

20 publications les plus récentes affichées.

Domaines principaux

Sciences de la vie et biotechnologies13 Sciences de la santé13 Sciences de la Terre et de l'environnement2

Statistiques

Consultations99
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