First molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene

Yazar: Chebly, Alain, Corbani, Sandra, Abou Ghoch, Joelle, Mehawej, Cybel, Megarbane, André, Chouery, Eliane
Yayımlandı BMC Med Genet (2018)

Evidence that homozygous PTPRD gene microdeletion causes trigonocephaly, hearing loss, and intellectual disability

Yazar: Choucair, Nancy, Mignon-Ravix, Cecile, Cacciagli, Pierre, Abou Ghoch, Joelle, Fawaz, Ali, Mégarbané, André, Villard, Laurent, Chouery, Eliane
Yayımlandı Mol Cytogenet (2015)

An Evaluation of the Stemness, Paracrine, and Tumorigenic Characteristics of Highly Expanded, Minimally Passaged Adipose-Derived Stem Cells

Yazar: El Atat, Oula, Antonios, Diane, Hilal, George, Hokayem, Nabil, Abou-Ghoch, Joelle, Hashim, Hussein, Serhal, Rim, Hebbo, Clara, Moussa, Mayssam, Alaaeddine, Nada
Yayımlandı PLoS One (2016)

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy

Yazar: 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
Baskı/Yayın Bilgisi 2011

Mutations of POLR3A Encoding a Catalytic Subunit of RNA Polymerase Pol III Cause a Recessive Hypomyelinating Leukodystrophy p415

Yazar: 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
Baskı/Yayın Bilgisi 2012

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population

Yazar: 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
Yayımlandı BMC Med Genomics (2019)

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Yazar: 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
Baskı/Yayın Bilgisi 2011