Search Results - Abdelaziz Sefiani
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1
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
Published 2020Call Number: Loading…Connect to this object online.
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2
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 2021Call Number: Loading…Connect to this object online.
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3
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
Published 2021Call Number: Loading…Connect to this object online.
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4
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
Published 2016Call Number: Loading…Connect to this object online.
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5
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 2018Call Number: Loading…Connect to this object online.
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6
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 2017Call Number: Loading…Connect to this object online.
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7
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 2021Call Number: Loading…Connect to this object online.
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8
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 2018Call Number: Loading…Connect to this object online.
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9
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 2018Call Number: Loading…Connect to this object online.
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