Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature by Afaf Lamzouri, Ilham Ratbi, Abdelaziz Sefiani

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A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report by Yassamine Doubaj, Wiam Smaili, Fatima-Zahra Laarabi, Abdelaziz Sefiani

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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

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A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature by Fatima Ouboukss, Fatima Ouboukss, Zhour El Amrani, Zhour El Amrani, Hicham Bouchahta, Ilham Ratbi, Aziza Sbiti, Thomas Liehr, Abdelaziz Sefiani, Abdelaziz Sefiani, Abdelhafid Natiq

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Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis by Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, Abdelaziz Sefiani

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A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report by Maria Zerkaoui, Fatima Zahra Laarabi, Yousra Ajhoun, Bouchra Chkirate, Abdelaziz Sefiani

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Le diagnostic anténatal de la trisomie 21 par l'hybridation in situ en fluorescence (FISH): à propos des premiers tests réalisés au Maroc by Afaf Lamzouri, Abdelhafid Natiq, Mariam Tajir1, Mohamed Sendid, Abdelaziz Sefiani

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Moroccan consanguineous family with Becker myotonia and review by Ilham Ratbi, Siham Chafai Elalaoui, Adela Escudero, Yamina Kriouile, Jesus Molano, Abdelaziz Sefiani

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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

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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

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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

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15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review by Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki, Abdelaziz Sefiani

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Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome by Meriem BAZIZ, Zohra HAMOULI-SAID, Ilham RATBI, Mohamed HABEL, Soukaina GUAOUA, Aziza SBITI, Abdelaziz SEFIANI

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Syndrome de Costello: à propos d'une observation by Mariam Tajir, Patricia Fergelot, Gwenaelle Lancelot, Benoit Arveiler, Siham Chafai Elalaoui, Didier Lacombe, Abdelaziz Sefiani

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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

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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

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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

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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

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High frequency of the recurrent c.1310_1313delAAGA BRCA2 mutation in the North-East of Morocco and implication for hereditary breast–ovarian cancer prevention and control by Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani

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Associations between clinical characteristics and angiotensin-converting enzyme gene insertion/deletion polymorphism in Moroccan population with Type-2 diabetic nephropathy by Maria Mansouri, Amal Zniber, Lamia Boualla, Ghizlane El Badaoui, Mariam Benkacem, Kaoutar Rifai, Abdelmjid Chraibi, Loubna Benamar, Abdelaziz Sefiani, Rabia Bayahia

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