1p36 deletion syndrome: first case report in Morocco detected by fluorescence in situ hybridization

por Dafir, Kenza, Bouzid, Fatima Zahra, Mansouri, Maria, Aboussair, Nisrine
Publicado 2020

Focal Dermal Hypoplasia: Case Series

por Mansouri, Maria, Bouzid, Fatima Zohra, Amal, Said., Hocar, Oufae, Aboussair, Nissrine
Publicado 2023

A homozygous AHI1 gene mutation (p.Thr304AsnfsX6) in a consanguineous Moroccan family with Joubert syndrome: a case report

por Chafai-Elalaoui, Siham, Chalon, Matthias, Elkhartoufi, Nadia, Kriouele, Yamna, Mansouri, Maria, Attié-Bitach, Tania, Sefiani, Abdelaziz, Baala, Lekbir
Publicado 2015

Spinocerebellar ataxia Type 7: clinical and genetic study of a new Moroccan family (case report)

por Bouzid, Fatima Zahra, Mansouri, Maria, Abdelaziz, Chaikhy, Louhab, Nisrine, Bernard, Sablonniere, Strubi-Vuillaume, Isabelle, Dafir, Kenza, Aboussair, Nisrine
Publicado 2021

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

por Lyahyai, Jaber, Oulad Amar Bencheikh, Bouchra, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Publicado 2018

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

por Lyahyai, Jaber, Bencheikh, Bouchra Ouled Amar, Elalaoui, Siham C., Mansouri, Maria, Boualla, Lamia, DIonne-Laporte, Alexandre, Spiegelman, Dan, Dion, Patrick A., Cossette, Patrick, Rouleau, Guy A., Sefiani, Abdelaziz
Publicado 2018