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1دورية أكاديمية
المؤلفون: Pavel Solný, Klára Roženková
المصدر: Pedagogická Orientace, Vol 16, Iss 3 (2006)
مصطلحات موضوعية: Education, Education (General), L7-991
وصف الملف: electronic resource
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المؤلفون: Guftar Shaikh, Ruta Navardauskaite, Enza Mozzillo, Antonia Dastamani, Zdenek Sumnik, Klaus Mohnike, Kristina Casteels, S Faisal Ahmed, Jillian Bryce, Lukas Plachy, Hoong-Wei Gan, Klara Rozenkova, Susann Empting, Rasa Verkauskiene, Annemarie A. Verrijn Stuart, Giulio Maltoni
المصدر: Hormone Research in Paediatrics. 94:1-445
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Endocrinology, business.industry, Endocrinology, Diabetes and Metabolism, Pediatrics, Perinatology and Child Health, Congenital hyperinsulinism, medicine, Endocrine system, medicine.disease, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::19088be5f2ef8dbff0628a53f4acaa4e
https://doi.org/10.1159/000518849 -
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المؤلفون: Anina Enderli, Krishna Chatterjee, David A. Koolen, Jana Malikova, Paul Dimitri, Roelineke J. Lunsing, Patricia Crock, Charles Marques Lourenço, Corstiaan A. den Uil, Ferdy S van Geest, Jan Lebl, Christine M. Armour, Michaela Linder-Lucht, Tony Huynh, Annette Hackenberg, Zita Halász, Jan Fairchild, Francesco Porta, Adri van der Walt, Verónica Mericq, Gautem P. Ambegaonkar, Nitash Zwaveling-Soonawala, Daniel Konrad, D Barca, Barbara Castellotti, Cláudia Fernandes Lorea, Anna Dolcetta-Capuzzo, Peter J Simm, Heiko Krude, Evelien F. Gevers, Ayhan Abaci, Claudia Castiglioni, Jet van der Spek, Jolante Wierzba, Carla Moran, Serap Turan, Isabelle Oliver-Petit, Felipe Monti Lora, Amnon Zung, Klara Rozenkova, Nicola Brunetti-Pierri, Fabiano de Oliveira Poswar, W. Edward Visser, Gopinath M. Subramanian, Bianka Heinrich, Irenaeus F.M. de Coo, Milou A.M. Stals, Belinda George, Michael Wurm, Alice Dica, Amy Lawson-Yuen, Rachana Dubey, Christina Reinauer, Athanasia Stoupa, Stefan Groeneweg, Joel Vanderniet, Marjolein H G Dremmen, Marie Claire Y. de Wit, Marjo S. van der Knaap, Edna E. Mancilla, Dana Craiu, Korcan Demir, Greta Lyons, Gerarda Cappuccio, Jean Louis Wémeau, Yogen Singh, Anne McGowan, Alberto Alcantud, Praveen G. Paul, Enrico Bertini, Laura Paone, Marco Spada, Régis Coutant, Marco Cappa, Ingrid M. van Beynum, Jonathan Gallichan, Nicole I. Wolf, Michel Polak, Marieke M. van der Knoop, Christian DeGoede, Davide Tonduti, Federica Zibordi, Tuba Seven Menevse, Katalin Eszter Müller, Anna Simon, Marianna Bugiani, Priyanka Bakhtiani, Anna Kłosowska
المساهمون: Internal Medicine, Pediatrics, Neurology, Radiology & Nuclear Medicine, Cardiology, Intensive Care, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pathology, Pediatric surgery, Paediatric Endocrinology, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, Functional Genomics, Groeneweg, S., van Geest, F. S., Abaci, A., Alcantud, A., Ambegaonkar, G. P., Armour, C. M., Bakhtiani, P., Barca, D., Bertini, E. S., van Beynum, I. M., Brunetti-Pierri, Nicola, Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., de Coo, I. F. M., Coutant, R., Craiu, D., Crock, P., Degoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M. H. G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E. F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., van der Knaap, M. S., van der Knoop, M. M., Konrad, D., Koolen, D. A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C. F., Lourenco, C. M., Lunsing, R. J., Lyons, G., Malikova, J., Mancilla, E. E., Mcgowan, A., Mericq, V., Lora, F. M., Moran, C., Muller, K. E., Oliver-Petit, I., Paone, L., Paul, P. G., Polak, M., Porta, F., Poswar, F. O., Reinauer, C., Rozenkova, K., Menevse, T. S., Simm, P., Simon, A., Singh, Y., Spada, M., van der Spek, J., Stals, M. A. M., Stoupa, A., Subramanian, G. M., Tonduti, D., Turan, S., den Uil, C. A., Vanderniet, J., van der Walt, A., Wemeau, J. -L., Wierzba, J., de Wit, M. -C. Y., Wolf, N. I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, W. E.
المصدر: The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier
Groeneweg, S, van Geest, F S, Abacı, A, Alcantud, A, Ambegaonkar, G P, Armour, C M, Bakhtiani, P, Barca, D, Bertini, E S, van Beynum, I M, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, I F M, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, M H G, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, E F, Hackenberg, A, Halász, Z, Heinrich, B, Huynh, T, Kłosowska, A, van der Knaap, M S, van der Knoop, M M, Konrad, D, Koolen, D A, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, C F, Lourenço, C M, Lunsing, R J, Lyons, G, Malikova, J, Mancilla, E E, McGowan, A, Mericq, V, Lora, F M, Moran, C, Müller, K E, Oliver-Petit, I, Paone, L, Paul, P G, Polak, M, Porta, F, Poswar, F O, Reinauer, C, Rozenkova, K, Menevse, T S, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, M A M, Stoupa, A, Subramanian, G M, Tonduti, D, Turan, S, den Uil, C A, Vanderniet, J, van der Walt, A, Wémeau, J L, Wierzba, J, de Wit, M C Y, Wolf, N I, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N & Visser, W E 2020, ' Disease characteristics of MCT8 deficiency : an international, retrospective, multicentre cohort study ', The Lancet Diabetes and Endocrinology, vol. 8, no. 7, pp. 594-605 . https://doi.org/10.1016/S2213-8587(20)30153-4
LANCET DIABETES & ENDOCRINOLOGY
r-FISABIO: Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)
r-FISABIO. Repositorio Institucional de Producción Científica
instname
Lancet Diabetes & Endocrinology, 8, 594-605
Lancet Diabetes & Endocrinology, 8, 7, pp. 594-605
Lancet Diabetes & Endocrinology, 8(7), 594-605. ELSEVIER SCIENCE INC
The Lancet Diabetes and Endocrinology, 8(7), 594-605. Elsevier BV
Lancet. Diabetes and endocrinology, 8(7), 594-605. Elsevier BVمصطلحات موضوعية: Male, Pediatrics, Endocrinology, Diabetes and Metabolism, Bayley Scales of Infant Development, Monocarboxylic Acid Transporter, 0302 clinical medicine, Endocrinology, Retrospective Studie, Neurodevelopmental Disorder, Medicine, 030212 general & internal medicine, Child, Thyroid hormone transport, Symporters, Mental Disorders, Hazard ratio, SDG 10 - Reduced Inequalities, Middle Aged, Prognosis, Survival Rate, International Agencie, Child, Preschool, Cohort, Mental Disorder, Female, Disease characteristics, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Human, Rare cancers Radboud Institute for Health Sciences [Radboudumc 9], Cohort study, Adult, Monocarboxylic Acid Transporters, medicine.medical_specialty, Adolescent, Prognosi, HEART-RATE, 030209 endocrinology & metabolism, Sudden death, Follow-Up Studie, MONOCARBOXYLATE TRANSPORTER-8, Young Adult, 03 medical and health sciences, HORMONE, Muscular Diseases, Internal Medicine, Humans, PSYCHOMOTOR RETARDATION, Survival rate, Aged, Retrospective Studies, Muscular Disease, business.industry, MUTATIONS, Symporter, Other Research Radboud Institute for Health Sciences [Radboudumc 0], Infant, International Agencies, Retrospective cohort study, Biomarker, Neurodevelopmental Disorders, Mutation, business, Biomarkers, Follow-Up Studies
وصف الملف: application/pdf
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المؤلفون: Jan Lebl, Petra Kucerova, Tara Hussein Tayeb, Shenali Anne Amaratunga, Klara Rozenkova, Stepanka Pruhova
المصدر: Hormone Research in Paediatrics. 93:58-65
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, 030219 obstetrics & reproductive medicine, biology, business.industry, Endocrinology, Diabetes and Metabolism, Insulin, medicine.medical_treatment, Recurrent hypoglycemia, Neonatal hypoglycemia, 030209 endocrinology & metabolism, Consanguinity, Neonatal age, Hypoglycemia, medicine.disease, ABCC8, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Pediatrics, Perinatology and Child Health, Congenital hyperinsulinism, medicine, biology.protein, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::a34ac937ede47792540e5e0f06ba77a5
https://doi.org/10.1159/000506476 -
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المؤلفون: Ondrej Cinek, Petra Dusatkova, Klara Rozenkova, Marketa Pavlikova, Jan Lebl, Zdenek Sumnik, Lenka Elblova, Denisa Janickova Zdarska, Stepanka Pruhova, Alena Spirkova, Jakub Hron
المصدر: Experimental and clinical endocrinologydiabetes : official journal, German Society of Endocrinology [and] German Diabetes Association. 130(2)
مصطلحات موضوعية: Adult, medicine.medical_specialty, Adolescent, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Maturity onset diabetes of the young, Treatment satisfaction, Young Adult, Endocrinology, Quality of life, Internal medicine, Diabetes mellitus, Internal Medicine, medicine, Humans, In patient, Child, Diabetes treatment satisfaction questionnaire, business.industry, Insulin, General Medicine, medicine.disease, Diabetes Mellitus, Type 1, Diabetes Mellitus, Type 2, Patient Satisfaction, Respondent, Quality of Life, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb43d1b0a19ff36cdc19f300635ab6a
https://pubmed.ncbi.nlm.nih.gov/32722819 -
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المؤلفون: Jana Malikova, Pål R. Njølstad, Stepanka Pruhova, Lenka Dusatkova, Jitka Kytnarova, Ingvild Aukrust, Azizun Nessa, Zdenek Sumnik, Khalid Hussain, Lise Bjørkhaug, Petra Dusatkova, Klara Rozenkova, Barbora Obermannova, Laeya A. Najmi, Jan Lebl, Blanka Rypackova
المصدر: The Journal of Clinical Endocrinology & Metabolism. 100:E1540-E1549
مصطلحات موضوعية: Adult, Male, Transcriptional Activation, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Clinical Biochemistry, Population, Context (language use), Protein Serine-Threonine Kinases, Sulfonylurea Receptors, medicine.disease_cause, Biochemistry, ABCC8, Germinal Center Kinases, Cohort Studies, Endocrinology, Pregnancy, Internal medicine, Genetic variation, medicine, Humans, Hepatocyte Nuclear Factor 1-alpha, Potassium Channels, Inwardly Rectifying, education, Czech Republic, Genetics, education.field_of_study, Mutation, biology, Biochemistry (medical), Infant, Newborn, Genetic Variation, Infant, DNA, medicine.disease, Pedigree, HNF1A, Hepatocyte Nuclear Factor 4, Child, Preschool, biology.protein, Congenital hyperinsulinism, Congenital Hyperinsulinism, Female, Rubidium Radioisotopes, HNF1A Gene
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c71a801d272958c208e88b33afe9101a
https://doi.org/10.1210/jc.2015-2763 -
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المؤلفون: Khalid Hussain, Petra Dusatkova, Klara Rozenkova, Jan Lebl, Barbora Obermannova, Zdenek Sumnik, Stepanka Pruhova, Azizun Nessa, Lenka Elblova
المصدر: Journal of Pediatric Endocrinology and Metabolism. 30
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Heterozygote, Multifactorial Inheritance, Endocrinology, Diabetes and Metabolism, 030209 endocrinology & metabolism, Sulfonylurea Receptors, medicine.disease_cause, ABCC8, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Insulin-Secreting Cells, medicine, Diazoxide, Humans, Family, Potassium Channels, Inwardly Rectifying, Child, Gene, Aged, Genetics, Mutation, biology, business.industry, Infant, Newborn, Wild type, Epistasis, Genetic, Heterozygote advantage, Middle Aged, medicine.disease, Pedigree, 030104 developmental biology, Child, Preschool, Pediatrics, Perinatology and Child Health, Congenital hyperinsulinism, biology.protein, Sulfonylurea receptor, Congenital Hyperinsulinism, business, medicine.drug