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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.
Jalkh, Nadine; Corbani, Sandra; Haidar, Zahraa; Hamdan, Nadine; Farah, Elias; Abou Ghoch, Joelle; Ghosn, Rouba; Salem, Nabiha; Fawaz, Ali; Djambas Khayat, Claudia; Rajab, Mariam; Mourani, Chebl; Moukarzel, Adib; Rassi, Simon; Gerbaka, Bernard; Mansour, Hicham; Baassiri, Malek; Dagher, Rawane; Breich, David; Mégarbané, André; Desvignes, Jean Pierre; Delague, Valérie; Mehawej, Cybel; Chouery, Eliane.
Afiliação
  • Jalkh N; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Corbani S; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Haidar Z; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Hamdan N; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Farah E; Service de technologie de l'information, Saint Joseph University, Beirut, Lebanon.
  • Abou Ghoch J; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Ghosn R; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Salem N; Unité de Génétique Médicale, Faculté de Médecine, Campus De l'innovation et du sport, Université Saint-Joseph, rue de Damas, Beirut, Lebanon.
  • Fawaz A; Neuropediatrics Department, Lebanese University, Beirut, Lebanon.
  • Djambas Khayat C; Division of Pediatrics, Hotel Dieu de France Hospital, Beirut, Lebanon.
  • Rajab M; Department of Pediatrics Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Mourani C; Department of Pediatrics, Makassed General Hospital, Beirut, Lebanon.
  • Moukarzel A; Division of Pediatrics, Hotel Dieu de France Hospital, Beirut, Lebanon.
  • Rassi S; Department of Pediatrics Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Gerbaka B; Division of Pediatrics, Hotel Dieu de France Hospital, Beirut, Lebanon.
  • Mansour H; Department of Pediatrics Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Baassiri M; Department of Otolaryngology-Head and Neck Surgery, Hotel Dieu de France Hospital, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Dagher R; Division of Pediatrics, Hotel Dieu de France Hospital, Beirut, Lebanon.
  • Breich D; Department of Pediatrics Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
  • Mégarbané A; Pediatric Neurometabolic Unit, Saint George University Medical Center, Beyrouth, Lebanon.
  • Desvignes JP; Department of Oncology, Hammoud Hospital University Medical Center, Saida, Lebanon.
  • Delague V; Department of Pediatrics, Notre Dame De Secours University Hospital, Byblos, Lebanon.
  • Mehawej C; Department of Pediatrics, Chtoura Hospital, Chtoura, Lebanon.
  • Chouery E; Unité de Génétique Médicale, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
BMC Med Genomics ; 12(1): 11, 2019 01 21.
Article em En | MEDLINE | ID: mdl-30665423

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Exoma / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Líbano País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Técnicas de Diagnóstico Molecular / Exoma / Sequenciamento do Exoma / Doenças Genéticas Inatas Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans País/Região como assunto: Asia Idioma: En Revista: BMC Med Genomics Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Líbano País de publicação: Reino Unido