Hasil Pencarian - Andre Mégarbané

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  1. 1
    CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review

    CNTNAP1 Mutations and Their Clinical Presentations: New Case Report and Systematic Review oleh Sandra Sabbagh, Stephanie Antoun, André Mégarbané

    Diterbitkan 2020-01-01
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  2. 2
    DNA methylation profiling in Trisomy 21 females with and without breast cancer

    DNA methylation profiling in Trisomy 21 females with and without breast cancer oleh Yosra Bejaoui, Sara Alresheq, Sophie Durand, Marie Vilaire-Meunier, Louise Maillebouis, Ayman Al Haj Zen, André Mégarbané, André Mégarbané, Nady El Hajj, Nady El Hajj

    Diterbitkan 2023-07-01
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  3. 3
    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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  4. 4
    A Report on a Family with TMTC3-Related Syndrome and Review

    A Report on a Family with TMTC3-Related Syndrome and Review oleh Sayeeda Hana, Deepak karthik, Jingxuan Shan, Stephany El Hayek, Lotfi Chouchane, André Megarbane

    Diterbitkan 2020-01-01
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  5. 5
    Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review

    Pseudo-Guillain–Barré syndrome masking acute myeloid leukemia relapse: Brief report and review oleh Fadi El Karak, Elie El Rassy, Samer Tabchi, Eliane Chouery, Andre Megarbane, Joseph Kattan

    Diterbitkan 2015-01-01
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  6. 6
    Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing.

    Molecular genetics of the Usher syndrome in Lebanon: identification of 11 novel protein truncating mutations by whole exome sequencing. oleh Ramesh Reddy, Somayyeh Fahiminiya, Elie El Zir, Ahmad Mansour, Andre Megarbane, Jacek Majewski, Rima Slim

    Diterbitkan 2014-01-01
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  7. 7
    Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome.

    Heterochromatic genes undergo epigenetic changes and escape silencing in immunodeficiency, centromeric instability, facial anomalies (ICF) syndrome. oleh Marie-Elisabeth Brun, Erica Lana, Isabelle Rivals, Gérard Lefranc, Pierre Sarda, Mireille Claustres, André Mégarbané, Albertina De Sario

    Diterbitkan 2011-01-01
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  8. 8
    Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East

    Case Report: The Genetic Diagnosis of Duchenne Muscular Dystrophy in the Middle East oleh Fouad Alghamdi, Asmaa Al-Tawari, Hadil Alrohaif, Walaa Alshuaibi, Walaa Alshuaibi, Hicham Mansour, Annemieke Aartsma-Rus, André Mégarbané

    Diterbitkan 2021-09-01
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  9. 9
    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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  10. 10
    Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

    Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome oleh Mark T. Handley, André Mégarbané, Alison M. Meynert, Stephen Brown, Elisabeth Freyer, Martin S. Taylor, Ian J. Jackson, Irene A. Aligianis

    Diterbitkan 2014-07-01
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  11. 11
    Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations

    Dravet Syndrome in Lebanon: First Report on Cases with SCN1A Mutations oleh Saada Alame, Eliane El-Houwayek, Caroline Nava, Sandra Sabbagh, Ali Fawaz, Anne-Celine Gillart, Dana Hasbini, Christel Depienne, André Mégarbané

    Diterbitkan 2019-01-01
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  12. 12
    A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects.

    A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Mi... oleh Céline Augière, Simon Mégy, Rajae El Malti, Anne Boland, Loubna El Zein, Bernard Verrier, André Mégarbané, Jean-François Deleuze, Patrice Bouvagnet

    Diterbitkan 2015-01-01
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  13. 13
    Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization

    Epigenetic age acceleration in surviving versus deceased COVID-19 patients with acute respiratory distress syndrome following hospitalization oleh Yosra Bejaoui, Fathima Humaira Amanullah, Mohamad Saad, Sara Taleb, Martina Bradic, Andre Megarbane, Ali Ait Hssain, Charbel Abi Khalil, Nady El Hajj

    Diterbitkan 2023-11-01
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  14. 14
    Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1

    Altered action potential waveform and shorter axonal initial segment in hiPSC-derived motor neurons with mutations in VRK1 oleh Rémi Bos, Khalil Rihan, Patrice Quintana, Lara El-Bazzal, Nathalie Bernard-Marissal, Nathalie Da Silva, Rosette Jabbour, André Mégarbané, Marc Bartoli, Frédéric Brocard, Valérie Delague

    Diterbitkan 2022-03-01
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  15. 15
    Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3

    Progressive pseudorheumatoid dysplasia in North and West Africa: Clinical description in ten patients with mutations of WISP3 oleh Eliane Chouery, Sandra Corbani, Jaleleddine Dahmen, Leila Zouari, Moez Gribaa, Nadia Leban, Jemni Ben Chibani, Gérard Lefranc, Ali Saad, Amel Haj Khelil, Andoni Urtizberea, André Mégarbané

    Diterbitkan 2017-07-01
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  16. 16
    Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer

    Transcriptomic study in women with trisomy 21 identifies a possible role of the GTPases of the immunity-associated proteins (GIMAP) in the protection of breast cancer oleh André Mégarbané, David Piquemal, Anne-Sophie Rebillat, Samantha Stora, Fabien Pierrat, Roman Bruno, Florian Noguier, Clotilde Mircher, Aimé Ravel, Marie Vilaire-Meunier, Sophie Durand, Gérard Lefranc

    Diterbitkan 2020-06-01
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  17. 17
    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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  18. 18
    Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.

    Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways. oleh Clémentine Ripoll, Isabelle Rivals, Emilie Ait Yahya-Graison, Luce Dauphinot, Evelyne Paly, Clothilde Mircher, Aimé Ravel, Yann Grattau, Henri Bléhaut, André Mégarbane, Guy Dembour, Bénédicte de Fréminville, Renaud Touraine, Nicole Créau, Marie Claude Potier, Jean Maurice Delabar

    Diterbitkan 2012-01-01
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  19. 19
    New chimeric RNAs in acute myeloid leukemia [version 2; referees: 2 approved]

    New chimeric RNAs in acute myeloid leukemia [version 2; referees: 2 approved] oleh Florence Rufflé, Jerome Audoux, Anthony Boureux, Sacha Beaumeunier, Jean-Baptiste Gaillard, Elias Bou Samra, Andre Megarbane, Bruno Cassinat, Christine Chomienne, Ronnie Alves, Sebastien Riquier, Nicolas Gilbert, Jean-Marc Lemaitre, Delphine Bacq-Daian, Anne Laure Bougé, Nicolas Philippe, Therese Commes

    Diterbitkan 2017-12-01
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  20. 20
    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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