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المؤلفون: Fatma Gumruk, Guoliang Chai, Bertrand Boisson, Natalia Ordonez, Ricardo Moreno Traspas, Maha S. Zaki, Stephanie Efthymiou, Dana Hasbini, Sze Hwee Seet, Thanh Thao Nguyen Ly, Jean-Laurent Casanova, Tadahiro Mitani, Michael Maier, Danielle Sng, Pelin Ozlem Simsek-Kiper, Davut Pehlivan, Hülya Kayserili, James R. Lupski, Nese Yarali, Kornelia Tripolszki, Abigail Loh, Hui Hui Wong, Robert J. Isfort, Joshua J. Coon, Sedat Işıkay, Frederic Bard, Ece Cepni, Evgenia Shishkova, Charles C. Bascom, Chao Liang, Afaf Alsubhi, Bruno Reversade, Nurten A. Akarsu, Tze Shin Teoh, Jarred W. Rensvold, Nima Rezaei, Soh Sok Keng, David J. Pagliarini, Serdar Ceylaner, Naser Gilani, Lena Ho, Fatima Megala Nathan, Siew Chin Choo, Hamdi Mbarek, Crystal Y. Chia, Wafaa Eyaid, Ozlem Arman-Bilir, Reza Maroofian, Simin Seyedpour, Kortessa Sotiropoulou, Joseph G. Gleeson, Peter Bauer, Arda Cetinkaya, Beril Talim, Fernanda L. Sirota, Sule Unal, Ghamar Taj Khotaei, Sebastian Maurer-Stroh, Franziska Paul, Shan Zhang, Elanur Yılmaz, Ayse Gurel, Shifeng Xue, Henry Houlden, Ajay S. Mathuru, Myriam Chaabouni, Aida M. Bertoli-Avella, Candice Lainé, Cheryl Yi-Pin Lee, Danai Georgiadou, Nur Ain Ali, Deniz Uğurlu Çi̇men

المساهمون: Graduate School, ACS - Diabetes & metabolism, APH - Mental Health, ARD - Amsterdam Reproduction and Development

المصدر: American journal of human genetics, 108(7), 1301-1317. Cell Press
Am J Hum Genet

مصطلحات موضوعية: Male, Proband, Mitochondrial Diseases, GBE1, C2ORF69, mitochondriopathy, inflammation, GBE1, encephalopathy, zebrafish, Elbracht-Işikay syndrome, lipase, glycogen, Mendelian genetics, Mitochondrion, Bioinformatics, Leukoencephalopathy, chemistry.chemical_compound, 0302 clinical medicine, lipase, Medicine, Zebrafish, Genetics (clinical), Genetics, 0303 health sciences, Glycogen, biology, encephalopathy, Biological Evolution, Pedigree, mitochondriopathy, glycogen, Encephalitis, Female, Elbracht-Işikay syndrome, Encephalopathy, Genes, Recessive, C2ORF69, Article, Cell Line, 03 medical and health sciences, Seizures, Glycogen branching enzyme, Animals, Humans, Gene, 030304 developmental biology, business.industry, Correction, Membrane Proteins, Regret, zebrafish, medicine.disease, Autoinflammatory Syndrome, biology.organism_classification, Human genetics, chemistry, inflammation, Mendelian genetics, biology.protein, CRISPR-Cas Systems, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13d560c7d64faf2e637e92da4ba67e3
https://doi.org/10.1016/j.ajhg.2021.06.009

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المؤلفون: Ali Koşar, Mustafa Koroglu, Senem Maral, Ayse Gurel, Osman Kaftan, Hakan Goker, Ibrahim C. Haznedaroglu, Ozlem Sahin Balcik

المصدر: International Journal of Hematology and Oncology. 22:267-274

مصطلحات موضوعية: Cross over, Hemostat, medicine.medical_specialty, Hemostatic Agent, biology, Double blinded, business.industry, Hematology, biology.organism_classification, Placebo, Surgery, Clinical study, Oncology, Internal medicine, Healthy volunteers, medicine, Glycyrrhiza, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::efe90562e361f19ef797bb0ad451673c
https://doi.org/10.4999/uhod.10124

المؤلفون: Sumeyye Akyol, Ferah Armutcu, Sema Uysal, Ayse Gurel, Rukiye Hasgul, Hacer Haltas, Yasemin Yuksel

المصدر: Toxicology and industrial health. 30(10)

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Health, Toxicology and Mutagenesis, Pharmacology, Toxicology, medicine.disease_cause, Protective Agents, Proinflammatory cytokine, Nitric oxide, Superoxide dismutase, chemistry.chemical_compound, Gastric mucosa, medicine, Animals, Rats, Wistar, chemistry.chemical_classification, Reactive oxygen species, biology, Aspirin, Chemistry, Plant Extracts, Public Health, Environmental and Occupational Health, Malondialdehyde, Rats, Disease Models, Animal, Oxidative Stress, medicine.anatomical_structure, Gastric Mucosa, Myeloperoxidase, biology.protein, Oxidative stress

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c21a6685d2c6ceb8724e87a3e171c38b
https://pubmed.ncbi.nlm.nih.gov/23114375

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