AS
Abdelaziz Sefiani

Publications (15)

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
Article scientifique · 2018
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Article scientifique · 2018
A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report
Article scientifique · 2018
Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease
Article scientifique · 2017
A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report
Article scientifique · 2017
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
A novel TRPS1 mutation in a Moroccan family with Tricho-rhino-phalangeal syndrome type III: case report
Article scientifique · 2017
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report
Article scientifique · 2017
20p12.3 deletion is rare cause of syndromic cleft palate: case report and review of literature
Article scientifique · 2016
Insulin-like growth factor type 1 deficiency in a Moroccan patient with de novo inverted duplication 9p24p12 and developmental delay: a case report
Article scientifique · 2016

Domaines principaux

Sciences de la vie et biotechnologies8 Sciences de la santé7

Statistiques

Consultations44
Téléchargements0