Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

por El Kadiri, Youssef, Ratbi, Ilham, Sefiani, Abdelaziz, Lyahyai, Jaber
Publicado 2022

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

por El Kadiri, Youssef, Ratbi, Ilham, Laarabi, Fatima Zahra, Kriouile, Yamna, Sefiani, Abdelaziz, Lyahyai, Jaber
Publicado 2021

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

por Sahli, Maryem, Zrhidri, Abdelali, Boualaoui, Imad, Cherkaoui Jaouad, Imane, El Kadiri, Youssef, Nouini, Yassine, Sefiani, Abdelaziz
Publicado 2023

Clinical, cytogenetic and molecular findings in nine Moroccan patients with Fanconi anemia

por Doubaj, Yassamine, Zrhidri, Abdelali, Elalaoui, Siham Chafai, Lyahyai, Jaber, El Kadiri, Youssef, Elkassimi, Nadia, Sbiti, Aziza, El Kababri, Maria, Hessissen, Laila, Sefiani, Abdelaziz
Publicado 2021

Investigation of bacterial diversity using 16S rRNA sequencing and prediction of its functionalities in Moroccan phosphate mine ecosystem

por Azaroual, Salah Eddine, Kasmi, Yassine, Aasfar, Abderrahim, El Arroussi, Hicham, Zeroual, Youssef, El Kadiri, Youssef, Zrhidri, Abdelali, Elfahime, Elmostafa, Sefiani, Abdelaziz, Meftah Kadmiri, Issam
Publicado 2022