Hasil Pencarian - Cybel Mehawej

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  1. 1
    Actionable Exomic Secondary Findings in 280 Lebanese Participants

    Actionable Exomic Secondary Findings in 280 Lebanese Participants oleh Nadine Jalkh, Cybel Mehawej, Eliane Chouery

    Diterbitkan 2020-03-01
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  2. 2
    Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseases

    Analysis of G-quadruplex forming sequences in podocytes-marker genes and their potential roles in inherited glomerular diseases oleh Mona Saad, Cybel Mehawej, Wissam H. Faour

    Diterbitkan 2023-09-01
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  3. 3
    The wolf in disguise: beyond humoral immunodeficiency

    The wolf in disguise: beyond humoral immunodeficiency oleh Carla Irani, Pamela Farah, Pascale Daniel, Cybel Mehawej

    Diterbitkan 2020-08-01
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  4. 4
    New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s)

    New complementary python codes to locate Single Nucleotide Polymorphisms (SNPs) and Overlapping G-Quadruplex Sequences (G4s) oleh Mona SAAD, Marc Shebaby, Cybel Mehawej, Wissam Faour

    Diterbitkan 2022-01-01
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  5. 5
    First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

    First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene oleh Alain Chebly, Sandra Corbani, Joelle Abou Ghoch, Cybel Mehawej, André Megarbane, Eliane Chouery

    Diterbitkan 2018-09-01
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  6. 6
    Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity

    Woodhouse-Sakati syndrome: genotype–phenotype review and case of intra-familial heterogeneity oleh Victor Wakim, Mohammad El Dassouki, Ahlam Azar, Abeer Hani, Cybel Mehawej, Eliane Chouery, Marie-Jeanne Baroudi, Gerard Wakim

    Diterbitkan 2024-07-01
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  7. 7
    ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review

    ADGRG1-related polymicrogyria syndrome: report on a large consanguineous family with a novel variant and review oleh Dalida El Khatib, Moussa Hojeij, Sandra Sabbagh, Cybel Mehawej, Eliane Chouery, Seung Woo Ryu, JiHye Kim, Andre Mégarbané

    Diterbitkan 2024-04-01
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  8. 8
    Molecular profiling of basal cell carcinomas in young patients

    Molecular profiling of basal cell carcinomas in young patients oleh Marc Abi Karam, Hampig Raphael Kourie, Nadine Jalkh, Cybel Mehawej, Carole Kesrouani, Fady Gh Haddad, Iman Feghaly, Eliane Chouery, Roland Tomb

    Diterbitkan 2021-07-01
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  9. 9
    Genetic susceptibility of bladder cancer in the Lebanese population

    Genetic susceptibility of bladder cancer in the Lebanese population oleh Hampig Raphael Kourie, Bahaa Succar, Eliane Chouery, Cybel Mehawej, Nizar Ahmadieh, Joseph Zouein, Avedis Mardirossian, Nadine Jalkh, Ghassan Sleilaty, Joseph Kattan, Elie Nemr

    Diterbitkan 2022-10-01
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  10. 10
    The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

    The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. oleh Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané

    Diterbitkan 2014-05-01
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  11. 11
    The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

    The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population oleh Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat, Mariam Rajab, Chebl Mourani, Adib Moukarzel, Simon Rassi, Bernard Gerbaka, Hicham Mansour, Malek Baassiri, Rawane Dagher, David Breich, André Mégarbané, Jean Pierre Desvignes, Valérie Delague, Cybel Mehawej, Eliane Chouery

    Diterbitkan 2019-01-01
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