Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

by Najlae Adadi, Maryem Sahli, Grégory Egéa, Ilham Ratbi, Mohamed Taoudi, Layla Zniber, Wafaa Jdioui, Said El Mouatassim, Abdelaziz Sefiani
Published 2018-10-01

A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

by Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Published 2018-07-01

Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

by Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani
Published 2017-09-01