Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature by Youssef El Kadiri, Ilham Ratbi, Abdelaziz Sefiani, Jaber Lyahyai

Get full text

Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report by Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

Get full text

First application of next-generation sequencing in four families with Wilson disease in Morocco by Maryem Sahli, Abdelali Zrhidri, Youssef El Kadiri, Imane Cherkaoui Jaouad, Toufik Meskini, Abdelaziz Sefiani

Get full text

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report by Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani

Get full text

Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco by Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai

Get full text