Identification by whole-exome sequencing of new single-nucleotide polymorphisms associated with molar-incisor hypomineralisation among the Lebanese population
Elzein, R., Abdel-Sater, F., Mehawej, C., Jalkh, N., Ayoub, F., Chouery, E.
Published in European archives of paediatric dentistry (01.12.2022)
Published in European archives of paediatric dentistry (01.12.2022)
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Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene
Van Maldergem, L, Siitonen, H A, Jalkh, N, Chouery, E, De Roy, M, Delague, V, Muenke, M, Jabs, E W, Cai, J, Wang, L L, Plon, S E, Fourneau, C, Kestilä, M, Gillerot, Y, Mégarbané, A, Verloes, A
Published in Journal of medical genetics (01.02.2006)
Published in Journal of medical genetics (01.02.2006)
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Journal Article
A novel locus for autosomal recessive primary torsion dystonia (DYT17) maps to 20p11.22–q13.12
Chouery, E., Kfoury, J., Delague, V., Jalkh, N., Bejjani, P., Serre, J. L., Mégarbané, A.
Published in Neurogenetics (01.10.2008)
Published in Neurogenetics (01.10.2008)
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Mild Campomelic Dysplasia: Report on a Case and Review
Corbani, S., Chouery, E., Eid, B., Jalkh, N., Abou Ghoch, J., Mégarbané, A.
Published in Molecular syndromology (01.01.2011)
Published in Molecular syndromology (01.01.2011)
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Journal Article
Molecular Study of Three Lebanese and Syrian Patients with Waardenburg Syndrome and Report of Novel Mutations in the EDNRB and MITF Genes
Haddad, N.M., Ente, D., Chouery, E., Jalkh, N., Mehawej, C., Khoueir, Z., Pingault, V., Mégarbané, A.
Published in Molecular syndromology (01.01.2011)
Published in Molecular syndromology (01.01.2011)
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412 Combination of Genomic Technologies and Consanguinity in Order to Identify Pathogenic Variants in Recessive Disorders
Makrythanasis, P, Nelis, M, Santoni, FA, Guipponi, M, Béna, F, Vanier, A, Duriaux-Sail, G, Gimelli, S, Stathaki, E, Falconnet, E, Temtamy, S, Megarbane, A, Aglan, M, Zaki, M, Fokstuen, S, Bottani, A, Masri, A, Psoni, S, Kitsiou, S, Frissyra, H, Kanavakis, E, All-Allawi, N, Sefiani, A, Al-Hait, S, Elalaoui, S, Jalkh, N, Al-Gazali, L, Al-Jasmi, F, Bouhamed, H Chaabouni, Hamamy, H, Antonarakis, SE
Published in Archives of disease in childhood (01.10.2012)
Published in Archives of disease in childhood (01.10.2012)
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Jalkh, N. Nadine, Haidar, Zahraa, Corbani, S., Delague, Valérie, Mégarbané, André, Chouery, E.
Published in European journal of human genetics : EJHG (2019)
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Published in European journal of human genetics : EJHG (2019)
Journal Article
EPV152/#655 Genetic profile by whole exam sequencing of borderline ovarian tumors: series of 32 patients
Atallah, D, El Feghaly, I, Choueiry, E, Jalkh, N, Khaddage, A, Akiki, M, Kourie, H, El Kassis, N, Chahine, G, Moubarak, M
Published in International journal of gynecological cancer (01.11.2021)
Published in International journal of gynecological cancer (01.11.2021)
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618 Genetic profile by whole exome sequencing of borderline ovarian tumors: series of 32 patients
Atallah, D, El Feghaly, I, Choueiry, E, Jalkh, N, Khaddage, A, Akiki, M, Kourie, H, El Kassis, N, Chahine, G, Moubarak, M
Published in International journal of gynecological cancer (12.10.2021)
Published in International journal of gynecological cancer (12.10.2021)
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Comparative Clinical and Transcriptomal Profiles of Breast Cancer Between French and South Mediterranean Patients Show Minor but Significative Biological Differences
N. CHALABI, D.J. BERNARD-GALLON, Y.-J. BIGNON, THE BREAST MED CONSORTIUM: F. KWIATKOWSKI, M. AGIER, V. VIDAL, V. LAPLACE-CHABAUD, V. SYLVAIN-VIDAL, V. BERTHOLET, F. DE LONGUEVILLE, M. LACROIX, G. LECLERCQ, J. REMACLE, C. SIBILLE, N. ZAMMATEO, N. BEN JAAFAR, A. SEFIANI, K. OULDIM, A. MÃGARBANÃ, N. JALKH, W. MAHFOUDH, W. TROUDI, A. BEN AMMAR-EL GAÃED, L. CHOUCHANE
Published in Cancer genomics & proteomics (01.09.2008)
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Published in Cancer genomics & proteomics (01.09.2008)
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Familial Mediterranean fever (FMF) in Lebanon and Jordan: a population genetics study and report of three novel mutations
Medlej-Hashim, Myrna, Serre, Jean-Louis, Corbani, Sandra, Saab, Odile, Jalkh, Nadine, Delague, Valérie, Chouery, Eliane, Salem, Nabiha, Loiselet, Jacques, Lefranc, Gérard, Mégarbané, André
Published in European journal of medical genetics (01.10.2005)
Published in European journal of medical genetics (01.10.2005)
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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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