Showing 201 - 220 results of 457 for search '"Saint Joseph University"', query time: 0.19s Refine Results
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    The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population by 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

    Published 2019-01-01
    “…Methods Two hundred Lebanese patients, presenting a wide spectrum of genetic disorders (neurodevelopmental, neuromuscular or metabolic disorders, etc.), sporadic or inherited, dominant or recessive, were referred, over the last three and a half years, to the Medical Genetics Unit (UGM) of Saint Joseph University (USJ). In order to identify the genetic basis of these diseases, Whole Exome Sequencing (WES), followed by a targeted analysis, was performed for each case. …”
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  9. 209

    Jak rytownicy rewolucję naukową wygrawerowali by Tadeusz Sierotowicz

    Published 2012-06-01
    “…Remmert, Picturing the Scientific Revolution, Philadelphia, Saint Joseph's University Press, ss. 296.…”
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