Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy
Bernard, Geneviève, Chouery, Eliane, Putorti, Maria Lisa, Tétreault, Martine, Takanohashi, Asako, Carosso, Giovanni, Clément, Isabelle, Boespflug-Tanguy, Odile, Rodriguez, Diana, Delague, Valérie, Abou Ghoch, Joelle, Jalkh, Nadine, Dorboz, Imen, Fribourg, Sebastien, Teichmann, Martin, Megarbane, André, Schiffmann, Raphael, Vanderver, Adeline, Brais, Bernard
Published in American journal of human genetics (09.09.2011)
Published in American journal of human genetics (09.09.2011)
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Journal Article
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
Published in BMC medical genomics (21.01.2019)
Published in BMC medical genomics (21.01.2019)
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Journal Article
Genetic susceptibility of bladder cancer in the Lebanese population
Kourie, Hampig Raphael, Succar, Bahaa, Chouery, Eliane, Mehawej, Cybel, Ahmadieh, Nizar, Zouein, Joseph, Mardirossian, Avedis, Jalkh, Nadine, Sleilaty, Ghassan, Kattan, Joseph, Nemr, Elie
Published in BMC medical genomics (17.10.2022)
Published in BMC medical genomics (17.10.2022)
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Journal Article
Molecular profiling of basal cell carcinomas in young patients
Abi Karam, Marc, Kourie, Hampig Raphael, Jalkh, Nadine, Mehawej, Cybel, Kesrouani, Carole, Haddad, Fady Gh, Feghaly, Iman, Chouery, Eliane, Tomb, Roland
Published in BMC medical genomics (20.07.2021)
Published in BMC medical genomics (20.07.2021)
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Journal Article
Prevalance of BRCA1 and BRCA2 mutations in familial breast cancer patients in Lebanon
Jalkh, Nadine, Nassar-Slaba, Jinane, Chouery, Eliane, Salem, Nabiha, Uhrchammer, Nancy, Golmard, Lisa, Stoppa-Lyonnet, Domique, Bignon, Yves-Jean, Mégarbané, André
Published in Hereditary cancer in clinical practice (19.06.2012)
Published in Hereditary cancer in clinical practice (19.06.2012)
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Journal Article
1Novel MEFV transcripts in Familial Mediterranean fever patients and controls
Medlej-Hashim, Myrna, Nehme, Nancy, Chouery, Eliane, Jalkh, Nadine, Megarbane, André
Published in BMC medical genetics (09.06.2010)
Published in BMC medical genetics (09.06.2010)
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Journal Article
Population genetic data for 17 STR markers from Lebanon
Chouery, Eliane, Coble, Michael D, Strouss, Katharine M, Saunier, Jessica L, Jalkh, Nadine, Medlej-Hashim, Myrna, Ayoub, Fouad, Mégarbané, André
Published in Legal medicine (Tokyo, Japan) (01.11.2010)
Published in Legal medicine (Tokyo, Japan) (01.11.2010)
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Journal Article
Genetic profile of borderline ovarian tumors in the Lebanese population by whole‐exome sequencing
Feghaly, Iman, Kourie, Hampig, Moubarak, Malak, Chouery, Eliane, Mehawej, Cybel, Jalkh, Nadine, Atallah, David
Published in International journal of gynecology and obstetrics (01.09.2023)
Published in International journal of gynecology and obstetrics (01.09.2023)
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Journal Article
Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient
Gannagé-Yared, Marie-Hélène, Dodé, Catherine, Ghanem, Ismat, Chouery, Eliane, Jalkh, Nadine, Hardelin, Jean-Pierre, Mégarbané, André
Published in European journal of endocrinology (01.06.2005)
Published in European journal of endocrinology (01.06.2005)
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Journal Article
Molecular pathogenesis of hereditary lung cancer: a literature review
Rammal, Souraya, Kourie, Hampig Raphael, Jalkh, Nadine, Mehawej, Cybel, Chouery, Eliane, Moujaess, Elissar, Dabar, Georges
Published in Pharmacogenomics (01.08.2021)
Published in Pharmacogenomics (01.08.2021)
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Journal Article
A Homozygous Splicing Mutation in PDE2A in a Family With Atypical Rett Syndrome
Haidar, Zahraa, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, Fawaz, Ali, Mehawej, Cybel, Chouery, Eliane
Published in Movement disorders (01.05.2020)
Published in Movement disorders (01.05.2020)
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Journal Article
A homozygous stop gain mutation in BOD1 gene in a Lebanese patient with syndromic intellectual disability
Hamdan, Nadine, Mehawej, Cybel, Sebaaly, Ghada, Jalkh, Nadine, Corbani, Sandra, Abou‐Ghoch, Joelle, De Backer, O., Chouery, Eliane
Published in Clinical genetics (01.09.2020)
Published in Clinical genetics (01.09.2020)
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Journal Article
Results of NGS panel of hereditary breast and ovarian cancer in Lebanese women
Al Ajami, Joseph, Jalkh, Nadine, Moubarak, Ghadi, Eid, Roland, Haddad, Fady, Kattan, Joseph Gergi, Ghosn, Marwan, Atallah, David M., Chouery Khoury, Eliane, Kourie, Hampig Raphael
Published in Journal of clinical oncology (20.05.2019)
Published in Journal of clinical oncology (20.05.2019)
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Journal Article
Genetic Polymorphisms Involved in Bladder Cancer: A Global Review
Kourie, Hampig Raphael, Zouein, Joseph, Succar, Bahaa, Mardirossian, Avedis, Ahmadieh, Nizar, Chouery, Eliane, Mehawej, Cybel, Jalkh, Nadine, kattan, Joseph, Nemr, Elie
Published in Oncology reviews (06.11.2023)
Published in Oncology reviews (06.11.2023)
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Journal Article
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
Gutierrez-Rodrigues, Fernanda, Masri, Nohad, Chouery, Eliane, Diamond, Carrie, Jalkh, Nadine, Vicente, Alana, Kajigaya, Sachiko, Abillama, Fayez, Bejjani, Noha, Serhal, Wassim, Calado, Rodrigo T., Young, Neal S., Farhat, Hussein, Coussa, Marie Louise
Published in Human genetics (01.12.2019)
Published in Human genetics (01.12.2019)
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Journal Article
SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice
Okada, Ippei, Hamanoue, Haruka, Terada, Koji, Tohma, Takaya, Megarbane, Andre, Chouery, Eliane, Abou-Ghoch, Joelle, Jalkh, Nadine, Cogulu, Ozgur, Ozkinay, Ferda, Horie, Kyoji, Takeda, Junji, Furuichi, Tatsuya, Ikegawa, Shiro, Nishiyama, Kiyomi, Miyatake, Satoko, Nishimura, Akira, Mizuguchi, Takeshi, Niikawa, Norio, Hirahara, Fumiki, Kaname, Tadashi, Yoshiura, Koh-ichiro, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Furukawa, Takahisa, Matsumoto, Naomichi, Saitsu, Hirotomo
Published in American journal of human genetics (07.01.2011)
Published in American journal of human genetics (07.01.2011)
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Journal Article
Next-generation sequencing in familial breast cancer patients from Lebanon
Jalkh, Nadine, Chouery, Eliane, Haidar, Zahraa, Khater, Christina, Atallah, David, Ali, Hamad, Marafie, Makia J, Al-Mulla, Mohamed R, Al-Mulla, Fahd, Megarbane, Andre
Published in BMC medical genomics (15.02.2017)
Published in BMC medical genomics (15.02.2017)
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Journal Article