المؤلفون: Virijevic, M.^{Aff1, Aff2, IDs10689024003998_cor1}, Marjanovic, I., Andjelkovic, M., Jakovic, Lj^{Aff1, Aff2}, Micic, D., Bogdanovic, A.^{Aff1, Aff2}, Pavlovic, S.

المصدر: Familial Cancer. :1-5

المؤلفون: L. K. Seidlmayer, F. Riediger, N. Pagonas, P. Nordbeck, O. Ritter, B. Sasko

المصدر: Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: Catecholaminergic polymorphic ventricular tachycardia, CPVT, Ryanodine receptor type 2 (RyR2), Novel gene mutation, Cardiac arrest, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13256-018-1825-6; https://doaj.org/toc/1752-1947

URL الوصول: https://doaj.org/article/61dd50be0b6a4cbf83320dd2deda1752

المؤلفون: Chiao-Fan Chiu, Ju-Li Lin, Jainn-Jim Lin, Min-Hua Tseng, Fu-Sung Lo, Ming-Chou Chiang

المصدر: Pediatrics and Neonatology, Vol 57, Iss 5, Pp 420-426 (2016)

مصطلحات موضوعية: glycine decarboxylase gene, glycine encephalopathy, nonketotic hyperglycinemia, novel gene mutation, Taiwan, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1875957216000218; https://doaj.org/toc/1875-9572

URL الوصول: https://doaj.org/article/1f5918c2933c4dd7aa9634fe204c6cfd

المؤلفون: Seidlmayer, L. K.^{Aff1, Aff2}, Riediger, F.^Aff3, Pagonas, N.^Aff3, Nordbeck, P.^{Aff1, Aff2}, Ritter, O.^Aff3, Sasko, B.^Aff3

المصدر: Journal of Medical Case Reports. 12(1)

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

المؤلفون: Yu, Feng, Liu, Xiao-Min, Chen, Yin-He, Zhang, Sheng-Quan, Wang, Kai

المصدر: Neurological Sciences: Official Journal of the Italian Neurological Society. October 2015 36(10):1917-1919

المؤلفون: Ming-Chou Chiang, Jainn-Jim Lin, Fu-Sung Lo, Min-Hua Tseng, Chiao-Fan Chiu, Ju-Li Lin

المصدر: Pediatrics and Neonatology, Vol 57, Iss 5, Pp 420-426 (2016)

مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Hyperglycinemia, Hyperglycinemia, Nonketotic, Population, Taiwan, Gene mutation, Glycine encephalopathy, 03 medical and health sciences, 0302 clinical medicine, medicine, Humans, Pediatrics, Perinatology, and Child Health, Genetic Testing, education, Genetic testing, education.field_of_study, nonketotic hyperglycinemia, medicine.diagnostic_test, business.industry, Incidence, Incidence (epidemiology), lcsh:RJ1-570, Infant, Newborn, Infant, glycine decarboxylase gene, lcsh:Pediatrics, Electroencephalography, novel gene mutation, Glycine Dehydrogenase (Decarboxylating), medicine.disease, glycine encephalopathy, 030104 developmental biology, Mutation, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Age of onset, business, 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88e2e8d71f1bc2a70ccb5f1785ee6e9f
https://doi.org/10.1016/j.pedneo.2015.10.008

المؤلفون: B. Sasko, Lea K. Seidlmayer, Nikolaos Pagonas, F. Riediger, Peter Nordbeck, Oliver Ritter

المصدر: Journal of Medical Case Reports
Journal of Medical Case Reports, Vol 12, Iss 1, Pp 1-6 (2018)

مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Adolescent, medicine.medical_treatment, CPVT, Novel gene mutation, Electric Countershock, lcsh:Medicine, Physical exercise, Case Report, 030204 cardiovascular system & hematology, Ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia, Ryanodine receptor 2, Sudden cardiac death, 03 medical and health sciences, Electrocardiography, 0302 clinical medicine, Cardiac magnetic resonance imaging, Internal medicine, Secondary Prevention, Medicine, Humans, Point Mutation, cardiovascular diseases, Genetic Testing, Exercise, medicine.diagnostic_test, business.industry, lcsh:R, Ryanodine Receptor Calcium Release Channel, General Medicine, medicine.disease, Implantable cardioverter-defibrillator, Cardiac arrest, Ryanodine receptor type 2 (RyR2), Defibrillators, Implantable, 030104 developmental biology, Death, Sudden, Cardiac, Treatment Outcome, Ventricular fibrillation, Cardiology, cardiovascular system, Tachycardia, Ventricular, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a00d02032f0af29ce4597bdcb68b7df2
http://europepmc.org/articles/PMC6176516

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.

لا يتم عرض هذه النتيجة على الضيوف.
تسجيل الدخول للوصول الكامل.