The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

by Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani
Published 2015-03-01

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
Published 2021-04-01

Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series

by Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani
Published 2019-08-01

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

Prion protein gene variability in Spanish goats. Inference through susceptibility to classical scrapie strains and pathogenic distribution of peripheral PrP(sc.).

by Cristina Acín, Inmaculada Martín-Burriel, Eva Monleón, Jaber Lyahyai, José Luis Pitarch, Carmen Serrano, Marta Monzón, Pilar Zaragoza, Juan José Badiola
Published 2013-01-01

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

Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

by Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai, Amina Berraho
Published 2021-01-01

Gene expression profiling and association with prion-related lesions in the medulla oblongata of symptomatic natural scrapie animals.

by Hicham Filali, Inmaculada Martin-Burriel, Frank Harders, Luis Varona, Jaber Lyahyai, Pilar Zaragoza, Martí Pumarola, Juan J Badiola, Alex Bossers, Rosa Bolea
Published 2011-01-01

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

by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Published 2018-02-01

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

by Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani
Published 2018-04-01