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1دورية أكاديمية
المؤلفون: Waed Btadini, Ossama K Abou Hassan, Dana Saadeh, Ossama Abbas, Farah Ballout, Abdul-Ghani Kibbi, Ghassan Dbaibo, Nadine Darwiche, Georges Nemer, Mazen Kurban
المصدر: PLoS ONE, Vol 10, Iss 2, p e0115530 (2015)
وصف الملف: electronic resource
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2
المؤلفون: Mazen Kurban, Christina Bergqvist, Georges Nemer, Firas Kreidieh, Nour Hamzeh, Farah Ballout, Yutaka Shimomura, Ossama Abbas, Julnar Usta, Waed Btadini, Abdul Ghani Kibbi, Rémi Safi
المصدر: Archives of Dermatological Research. 309:637-643
مصطلحات موضوعية: Male, 0301 basic medicine, Adolescent, Photophobia, Population, Mutant, TRPV Cation Channels, Dermatology, Biology, medicine.disease_cause, 030207 dermatology & venereal diseases, 03 medical and health sciences, Rare Diseases, 0302 clinical medicine, medicine, Humans, Child, education, Gene, Genetics, education.field_of_study, Mutation, Ichthyosis, Genetic disorder, Metalloendopeptidases, Alopecia, General Medicine, medicine.disease, Phenotype, HEK293 Cells, 030104 developmental biology, Gene Expression Regulation, Immunology, Mutagenesis, Site-Directed, medicine.symptom, HeLa Cells
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3
المؤلفون: Humam Kadara, Mazen Kurban, Nelly Rebeiz, Waed Btadini, Abdul-Ghani Kibbi, Diana Delbani, Rémi Safi, Yutaka Shimomura, Ossama Abbas, Mona Tofaili, Fadi Bitar, Georges Nemer, Laetitia Daou
المصدر: Clinical genetics. 92(5)
مصطلحات موضوعية: 0301 basic medicine, Male, Systemic disease, Tumor suppressor gene, Adolescent, Protoporphyria, Erythropoietic, Colorectal cancer, Mutation, Missense, Consanguinity, 03 medical and health sciences, Liver disease, Young Adult, 0302 clinical medicine, Genetics, medicine, Humans, Family, Genes, Tumor Suppressor, RNA, Messenger, Lebanon, Child, Genetics (clinical), biology, Base Sequence, business.industry, Liver Diseases, Cancer, Ferrochelatase, Fibroblasts, medicine.disease, Coculture Techniques, Pedigree, Gene Expression Regulation, Neoplastic, 030104 developmental biology, Phenotype, 030220 oncology & carcinogenesis, Immunology, Colonic Neoplasms, biology.protein, Cancer research, Female, Erythropoietic protoporphyria, business
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4
المؤلفون: Maroun Bou Sleiman, Waed Btadini, Abdul-Ghani Kibbi, Mazen Kurban, Maria Bou Sleiman, Samar Khalil, Tracy Najjar, Adele Chedraoui, Mona Tofaili, Ossama Abbas
المصدر: The Journal of Dermatology. 42:822-824
مصطلحات موضوعية: Genetics, Web of science, Woolly hair, medicine, Hypotrichosis, Dermatology, General Medicine, Biology, medicine.disease, Novel mutation
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5
المؤلفون: Ossama K. Abou Hassan, Dana Saadeh, Mazen Kurban, Abdul-Ghani Kibbi, Ossama Abbas, Ghassan Dbaibo, Nadine Darwiche, Waed Btadini, Georges Nemer, Farah Ballout
المصدر: PLoS ONE
PLoS ONE, Vol 10, Iss 2, p e0115530 (2015)مصطلحات موضوعية: Male, Pemphigus, Benign Familial, Nonsense mutation, lcsh:Medicine, Apoptosis, Calcium-Transporting ATPases, Biology, medicine.disease_cause, Pathogenesis, Heat shock protein, Skin--Diseases, medicine, Pathology, Animals, Humans, Family, Myocytes, Cardiac, Heat shock, Lebanon, lcsh:Science, Cells, Cultured, Mutation, Multidisciplinary, lcsh:R, Autosomal dominant trait, Heart cells, Fibroblasts, Phenotype, Molecular biology, Rats, Blot, Medicine, lcsh:Q, Female, Heat-Shock Response, Research Article
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6
المؤلفون: Waed Btadini, Samer Ghosn, Dana Saadeh, Thurayya Arayssi, Imad Uthman, R. Badra, Mazen Kurban, Georges Nemer, Chantal Farra
المصدر: Journal of the European Academy of Dermatology and Venereology. 29:2489-2490
مصطلحات موضوعية: Male, Adolescent, Osteoarthropathy, Primary Hypertrophic, business.industry, Organic Anion Transporters, Dermatology, Computational biology, Young Adult, Infectious Diseases, Codon, Nonsense, Humans, Medicine, Family, Genetic Testing, Lebanon, business