Resultados da pesquisa - Abdelaziz SEFIANI

Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis Por Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, 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 Por Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

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15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review Por 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 Por Meriem BAZIZ, Zohra HAMOULI-SAID, Ilham RATBI, Mohamed HABEL, Soukaina GUAOUA, Aziza SBITI, Abdelaziz SEFIANI

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A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report Por Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

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Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease Por Abdelali Zrhidri, Saadia Amasdl, Jaber Lyahyai, Hanane Elouardi, Bouchra Chkirate, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

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Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report Por Yahya Benbouchta, Imane Cherkaoui Jaouad, Habiba Tazi, Hamza Elorch, Mouna Ouhenach, Abdelali Zrhidri, Khalid Sadki, Abdelaziz Sefiani, Jaber Lyahyai, Amina Berraho

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

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

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