Hasil Pencarian - Abdelaziz Sefiani

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  1. 1
    Syndrome de Silver Russell: A propos de 3 cas et revue de la litterature

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

    Diterbitkan 2013-03-01
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  2. 2
    A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report

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

    Diterbitkan 2017-06-01
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  3. 3
    Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature

    Novel copy number variation of COLQ gene in a Moroccan patient with congenital myasthenic syndrome: a case report and review of the literature oleh Youssef El Kadiri, Ilham Ratbi, Abdelaziz Sefiani, Jaber Lyahyai

    Diterbitkan 2022-08-01
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  4. 4
    A maternally derived complex small supernumerary marker chromosome involving chromosomes 8 and 14: case report and review of the literature

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

    Diterbitkan 2024-02-01
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  5. 5
    Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis

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

    Diterbitkan 2020-12-01
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  6. 6
    A novel single variant in the MEFV gene causing Mediterranean fever and Behçet’s disease: a case report

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

    Diterbitkan 2018-03-01
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  7. 7
    Le diagnostic anténatal de la trisomie 21 par l'hybridation in situ en fluorescence (FISH): à propos des premiers tests réalisés au Maroc

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

    Diterbitkan 2012-10-01
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  8. 8
    Moroccan consanguineous family with Becker myotonia and review

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

    Diterbitkan 2011-01-01
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  9. 9
    Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report

    Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report oleh Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

    Diterbitkan 2021-04-01
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  10. 10
    First application of next-generation sequencing in four families with Wilson disease in Morocco

    First application of next-generation sequencing in four families with Wilson disease in Morocco oleh Maryem Sahli, Abdelali Zrhidri, Youssef El Kadiri, Imane Cherkaoui Jaouad, Toufik Meskini, Abdelaziz Sefiani

    Diterbitkan 2023-09-01
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  11. 11
    The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin

    The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin oleh Ilham Ratbi, Jaber Lyahyai, Meryem Kabiri, Meryem Banouar, Maria Zerkaoui, Amina Barkat, Abdelaziz Sefiani

    Diterbitkan 2015-03-01
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  12. 12
    15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

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

    Diterbitkan 2021-09-01
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  13. 13
    Cytogenetic Investigation in a Group of Ten Infertile Men with Non-Obstructive Azoospermia: First Algerian 46, XX Syndrome

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

    Diterbitkan 2016-08-01
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  14. 14
    Syndrome de Costello: à propos d'une observation

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

    Diterbitkan 2012-07-01
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  15. 15
    Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

    Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report oleh Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani

    Diterbitkan 2023-09-01
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  16. 16
    Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series

    Clinical exome sequencing identifies two novel mutations of the SCN1A and SCN2A genes in Moroccan patients with epilepsy: a case series oleh Maryem Sahli, Abdelali Zrhidri, Siham Chafai Elaloui, Wiam Smaili, Jaber Lyahyai, Fatima Zohra Oudghiri, Abdelaziz Sefiani

    Diterbitkan 2019-08-01
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  17. 17
    Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report

    Post-mortem diagnosis of Pompe disease by exome sequencing in a Moroccan family: a case report oleh Najlae Adadi, Maryem Sahli, Grégory Egéa, Ilham Ratbi, Mohamed Taoudi, Layla Zniber, Wafaa Jdioui, Said El Mouatassim, Abdelaziz Sefiani

    Diterbitkan 2018-10-01
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  18. 18
    A novel non sense mutation in WDR62 causes autosomal recessive primary microcephaly: a case report

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

    Diterbitkan 2018-07-01
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  19. 19
    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

    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 oleh Fatima-Zahra Laarabi, Ilham Ratbi, Siham Chafai Elalaoui, Loubna Mezzouar, Yassamine Doubaj, Laila Bouguenouch, Karim Ouldim, Noureddine Benjaafar, Abdelaziz Sefiani

    Diterbitkan 2017-06-01
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  20. 20
    Associations between clinical characteristics and angiotensin-converting enzyme gene insertion/deletion polymorphism in Moroccan population with Type-2 diabetic nephropathy

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

    Diterbitkan 2017-01-01
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