Showing 1 - 9 results of 9 for search 'Abdelaziz Sefiani', query time: 0.10s Refine Results
  1. 1
    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 by Mouna Ouhenach, Abdelali Zrhidri, Imane Cherkaoui Jaouad, Wiam Smaili, Abdelaziz Sefiani

    Published 2020
    Connect to this object online.
    Book
    Save to List
    Saved in:
  2. 2
    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 by Youssef El Kadiri, Ilham Ratbi, Fatima Zahra Laarabi, Yamna Kriouile, Abdelaziz Sefiani, Jaber Lyahyai

    Published 2021
    Connect to this object online.
    Book
    Save to List
    Saved in:
  3. 3
    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 by Yahya Benbouchta, Nicole De Leeuw, Saadia Amasdl, Aziza Sbiti, Dominique Smeets, Khalid Sadki, Abdelaziz Sefiani

    Published 2021
    Connect to this object online.
    Book
    Save to List
    Saved in:
  4. 4
    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 by Meriem BAZIZ, Zohra HAMOULI-SAID, Ilham RATBI, Mohamed HABEL, Soukaina GUAOUA, Aziza SBITI, Abdelaziz SEFIANI

    Published 2016
    Connect to this object online.
    Book
    Save to List
    Saved in:
  5. 5
    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 by Imane Cherkaoui Jaouad, Abdelali Zrhidri, Wafaa Jdioui, Jaber Lyahyai, Laure Raymond, Grégory Egéa, Mohamed Taoudi, Said El Mouatassim, Abdelaziz Sefiani

    Published 2018
    Connect to this object online.
    Book
    Save to List
    Saved in:
  6. 6
    Next Generation Sequencing identifies mutations in GNPTG gene as a cause of familial form of scleroderma-like disease

    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
    Connect to this object online.
    Book
    Save to List
    Saved in:
  7. 7
    Novel mutation in the TGFBI gene in a Moroccan family with atypical corneal dystrophy: a case report

    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
    Connect to this object online.
    Book
    Save to List
    Saved in:
  8. 8
    Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

    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
    Connect to this object online.
    Book
    Save to List
    Saved in:
  9. 9
    Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

    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
    Connect to this object online.
    Book
    Save to List
    Saved in:

Search Tools: