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

por Adadi, Najlae, Sahli, Maryem, Egéa, Grégory, Ratbi, Ilham, Taoudi, Mohamed, Zniber, Layla, Jdioui, Wafaa, El Mouatassim, Said, Sefiani, Abdelaziz
Publicado 2018

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

por Cherkaoui Jaouad, Imane, Zrhidri, Abdelali, Jdioui, Wafaa, Lyahyai, Jaber, Raymond, Laure, Egéa, Grégory, Taoudi, Mohamed, El Mouatassim, Said, Sefiani, Abdelaziz
Publicado 2018