Hyperphosphatemic familial tumoral calcinosis secondary to fibroblast growth factor 23 (FGF23) mutation: a report of two affected families and review of the literature
Chakhtoura, M., Ramnitz, M.S., Khoury, N., Nemer, G., Shabb, N., Abchee, A., Berberi, A., Hourani, M., Collins, M., Ichikawa, S., El Hajj Fuleihan, G.
Published in Osteoporosis international (01.09.2018)
Published in Osteoporosis international (01.09.2018)
Get full text
Journal Article
Unusual presentation of severe photosensitivity and neurodevelopmental delay in a consanguineous family
Al‐Hage, J., Nemer, G., Kassabian, P., Kurban, M.
Published in Clinical and experimental dermatology (01.01.2020)
Published in Clinical and experimental dermatology (01.01.2020)
Get full text
Journal Article
Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype
Shibbani, K., Fahed, A.C., Al-Shaar, L., Arabi, M., Nemer, G., Bitar, F., Majdalani, M.
Published in Clinical genetics (01.02.2014)
Published in Clinical genetics (01.02.2014)
Get full text
Journal Article
A gain-of-function TBX20 mutation causes congenital atrial septal defects, patent foramen ovale and cardiac valve defects
Posch, Maximilian G, Gramlich, Michael, Sunde, Margaret, Schmitt, Katharina R, Lee, Stella H Y, Richter, Silke, Kersten, Andrea, Perrot, Andreas, Panek, Anna N, Al Khatib, Iman H, Nemer, Georges, Mégarbané, André, Dietz, Rainer, Stiller, Brigitte, Berger, Felix, Harvey, Richard P, Özcelik, Cemil
Published in Journal of medical genetics (01.04.2010)
Published in Journal of medical genetics (01.04.2010)
Get full text
Journal Article
Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO2A1mutation
Saadeh, D., Kurban, M., Ghosn, S., Btadini, W., Nemer, G., Arayssi, T., Uthman, I., Badra, R., Farra, C.
Published in Journal of the European Academy of Dermatology and Venereology (01.12.2015)
Published in Journal of the European Academy of Dermatology and Venereology (01.12.2015)
Get full text
Journal Article
Identification of a novel mutation in the LOR gene in an Iraqi patient with loricrin keratoderma resembling epidermolytic hyperkeratosis
Khalil, S., Daou, L., Hayashi, R., Abbas, O., Nemer, G., Saadeh, D., Shimomura, Y., Kurban, M.
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
Published in Journal of the European Academy of Dermatology and Venereology (01.03.2017)
Get full text
Journal Article
A novel mutation in the RSPO4 gene in a patient with autosomal recessive anonychia
Khalil, S., Hayashi, R., Daou, L., Staiteieh, S. A., Abbas, O., Bergqvist, C., Nemer, G., Shimomura, Y., Kurban, M.
Published in Clinical and experimental dermatology (01.04.2017)
Published in Clinical and experimental dermatology (01.04.2017)
Get full text
Journal Article
Erythropoietic protoporphyria a clinical and molecular study from Lebanon: Ferrochelatase a potential tumor suppressor gene in colon cancer
Kadara, H., Nemer, G., Safi, R., Rebeiz, N., Daou, L., Delbani, D., Btadini, W., Abbas, O., Tofaili, M., Bitar, F., Kibbi, A.G., Shimomura, Y., Kurban, M.
Published in Clinical genetics (01.11.2017)
Published in Clinical genetics (01.11.2017)
Get full text
Journal Article
A novel heterozygous mutation in desmoplakin gene in a Lebanese patient with Carvajal syndrome and tooth agenesis
Bitar, F., Najjar, T., Hayashi, R., Nemer, G., Shigehara, Y., Hamie, L., Abbas, O., Kibbi, A.G., Shimomura, Y., Kurban, M.
Published in Journal of the European Academy of Dermatology and Venereology (01.12.2016)
Published in Journal of the European Academy of Dermatology and Venereology (01.12.2016)
Get full text
Journal Article
Tooth Development Associated with Mutations in Hereditary Vitamin D-Resistant Rickets
Hanna, A E, Sanjad, S, Andary, R, Nemer, G, Ghafari, J G
Published in JDR clinical and translational research (01.01.2018)
Published in JDR clinical and translational research (01.01.2018)
Get more information
Journal Article
Optimization of a Brayton external combustion gas-turbine system for extended range electric vehicles
Bou Nader, Wissam S., Mansour, Charbel J., Nemer, Maroun G.
Published in Energy (Oxford) (01.05.2018)
Published in Energy (Oxford) (01.05.2018)
Get full text
Journal Article
Early and severe liver disease associated with homozygosity for an exon 7 mutation, G691R, in Wilson's disease
Barada, K, Nemer, G, ElHajj, II, Touma, J, Cortas, N, Boustany, R-M, Usta, J
Published in Clinical genetics (01.09.2007)
Published in Clinical genetics (01.09.2007)
Get full text
Journal Article
A Murine Model of Holt-Oram Syndrome Defines Roles of the T-Box Transcription Factor Tbx5 in Cardiogenesis and Disease
Bruneau, Benoit G., Nemer, Georges, Schmitt, Joachim P., Charron, Frédéric, Robitaille, Lynda, Caron, Sophie, Conner, David A., Gessler, Manfred, Nemer, Mona, Seidman, Christine E., Seidman, J.G.
Published in Cell (21.09.2001)
Published in Cell (21.09.2001)
Get full text
Journal Article
Photosensibilité sévère et retard de développement au sein d’une famille consanguine
Al-Hage, J., Nemer, G., Kurban, M.
Published in Annales de dermatologie et de vénéréologie (01.12.2019)
Published in Annales de dermatologie et de vénéréologie (01.12.2019)
Get full text
Journal Article
P329GATA5: a key player in congenital heart diseases
Kassab, K, Hariri, H, Fahed, A, El-Rassi, I, Bitar, F, Nemer, G
Published in Cardiovascular research (15.07.2014)
Published in Cardiovascular research (15.07.2014)
Get full text
Journal Article
P569A novel role for NFATC1 in patients with both congenital heart disease and glaucoma
Hariri, H, Farhat, T, Khalaf, R, Fahed, A, Al-Haddad, C, Arabi, M, Bitar, F, Nemer, G
Published in Cardiovascular research (15.07.2014)
Published in Cardiovascular research (15.07.2014)
Get full text
Journal Article
Pachydermoperiostosis genetic screening in Lebanese families uncovers a novel SLCO 2A1mutation
Saadeh, D., Kurban, M., Ghosn, S., Btadini, W., Nemer, G., Arayssi, T., Uthman, I., Badra, R., Farra, C.
Published in Journal of the European Academy of Dermatology and Venereology (01.12.2015)
Published in Journal of the European Academy of Dermatology and Venereology (01.12.2015)
Get full text
Journal Article