المؤلفون: Yonatan Butbul Aviel, Ariel Keinan, Michaela F. Hartmann, Stefan A. Wudy, Dov Tiosano

المصدر: Pediatric Rheumatology Online Journal, Vol 21, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Juvenile idiopathic arthritis, Steroid, Metabolomics, GC-MS, Anti-TNFα, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1546-0096Test

الوصول الحر: https://doaj.org/article/ab16052cbfc74e84a748f6121263206bTest

المؤلفون: Dov Tiosano, Hagit N Baris, Anlu Chen, Marrit M Hitzert, Markus Schueler, Federico Gulluni, Antje Wiesener, Antonio Bergua, Adi Mory, Brett Copeland, Joseph G Gleeson, Patrick Rump, Hester van Meer, Deborah A Sival, Volker Haucke, Josh Kriwinsky, Karl X Knaup, André Reis, Nadine N Hauer, Emilio Hirsch, Ronald Roepman, Rolph Pfundt, Christian T Thiel, Michael S Wiesener, Mariam G Aslanyan, David A Buchner

المصدر: PLoS Genetics, Vol 15, Iss 4, p e1008088 (2019)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/53593e35407b4010bb8e4e02f0479df0Test

المؤلفون: Michal Cohen, Emanuele Pignatti, Monica Dines, Adi Mory, Nina Ekhilevitch, Rachel Kolodny, Christa E. Flück, Dov Tiosano

المصدر: International Journal of Molecular Sciences, Vol 21, Iss 16, p 5857 (2020)

مصطلحات موضوعية: congenital adrenal hyperplasia, CYP21A2, in silico, protein structure, VUS, consurf, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/1422-0067/21/16/5857Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test

الوصول الحر: https://doaj.org/article/91de160bfb334a158f819dd132c522f9Test

المؤلفون: Dov Tiosano, Laura Audi, Sharlee Climer, Weixiong Zhang, Alan R. Templeton, Monica Fernández-Cancio, Ruth Gershoni-Baruch, José Miguel Sánchez-Muro, Mohamed El Kholy, Zèev Hochberg

المصدر: G3: Genes, Genomes, Genetics, Vol 6, Iss 5, Pp 1251-1266 (2016)

مصطلحات موضوعية: epistasis, skin color, vitamin D, linkage disequilibrium, network analysis, adaptation, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2160-1836Test

الوصول الحر: https://doaj.org/article/0513303ddfe64b3eaa2e0886dfc7b3aaTest

المؤلفون: Fahad Aljuraibah, Justine Bacchetta, Maria Luisa Brandi, Pablo Florenzano, Muhammad K Javaid, Outimaija Mäkitie, Adalbert Raimann, Mariano Rodriguez, Heide Siggelkow, Dov Tiosano, Marc Vervloet, Carsten A Wagner

المساهمون: HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital, University of Zurich, Wagner, Carsten A, Nephrology, ACS - Diabetes & metabolism

المصدر: Aljuraibah, F, Bacchetta, J, Brandi, M L, Florenzano, P, Javaid, M K, Mäkitie, O, Raimann, A, Rodriguez, M, Siggelkow, H, Tiosano, D, Vervloet, M & Wagner, C A 2022, ' An Expert Perspective on Phosphate Dysregulation With a Focus on Chronic Hypophosphatemia ', Journal of Bone and Mineral Research, vol. 37, no. 1, pp. 12-20 . https://doi.org/10.1002/jbmr.4486Test
Journal of Bone and Mineral Research, 37(1), 12-20. Wiley-Blackwell

مصطلحات موضوعية: Adult, Adolescent, Hypophosphatemia, Endocrinology, Diabetes and Metabolism, FIBROBLAST GROWTH FACTOR 23, PHOSPHATE HOMEOSTASIS, 610 Medicine & health, METABOLISM, 10052 Institute of Physiology, MECHANISMS, Phosphates, X-LINKED HYPOPHOSPHATEMIA, 2732 Orthopedics and Sports Medicine, Endocrinology, MANAGEMENT, Humans, Orthopedics and Sports Medicine, ABNORMALITIES, PARATHYROID HORMONE, RICKETS, ADULTS, SERUM PHOSPHORUS, Diabetes and Metabolism, Fibroblast Growth Factors, 2712 Endocrinology, Diabetes and Metabolism, VITAMIN D, OSTEOMALACIA AND RICKETS, 3121 General medicine, internal medicine and other clinical medicine, Osteomalacia, PARATHYROID HORMONE/VITAMIN D/FIBROBLAST GROWTH FACTOR 23, Quality of Life, 570 Life sciences, biology, GROWTH, EXPERIENCE, Familial Hypophosphatemic Rickets

وصف الملف: J_of_Bone_Mineral_Res_-_2021_-_Aljuraibah_-_An_Expert_Perspective__on_Phosphate_Dysregulation_With_a_Focus_on_Chronic.pdf - application/pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16b952c94d6f8f0753d5cbb0a5f601f0Test
https://doi.org/10.1002/jbmr.4486Test

المؤلفون: Maria J. Guillen Sacoto, Jane A. Hurst, Yue Huang, Susan M. White, Michael E. March, Daniela Choukair, Qin Wang, Dana Brown, Matthew S. Kayser, Hane Lee, Tiong Yang Tan, Kristin Lindstrom, Hagit Baris Feldman, Dov Tiosano, Dong Li, Ashita Dava-Wala, Mariam Mathew, Matthew A. Deardorff, Katheryn Grand, Amy Siemon, Lynn Pais, Elizabeth J. Bhoj, Theresa Brunet, Julian A. Martinez-Agosto, Hakon Hakonarson, Naihua N. Gong, Kirsty McWalter, Claudia Gonzaga-Jauregui, Theresa A. Grebe, John Christodoulou, Melanie Brugger, Dennis Bartholomew, Yuanquan Song, Małgorzata J.M. Nowaczyk, Nikolas Boy, Emma Wakeling, Alina Kurolap, Eva M. C. Schwaibold

المصدر: Science Advances

مصطلحات موضوعية: Microcephaly, animal structures, Biology, 03 medical and health sciences, fluids and secretions, 0302 clinical medicine, Neurodevelopmental disorder, Developmental Neuroscience, mental disorders, Intellectual disability, medicine, reproductive and urinary physiology, Research Articles, Loss function, 030304 developmental biology, Genetics, 0303 health sciences, Multidisciplinary, fungi, SciAdv r-articles, Human Genetics, medicine.disease, Phenotype, ddc, Chromatin, Mushroom bodies, Sensory dendrite, 030217 neurology & neurosurgery, Research Article

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0084a2d2e2a2adb813a66d4d84cf7f0Test
https://doi.org/10.1126/sciadv.abf2066Test

المؤلفون: Dov Tiosano, Yosef Weisman

المصدر: Fertility and Sterility. 112:156-161

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Health Status, Rickets, Calcitriol receptor, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Pregnancy, Vitamin D and neurology, Humans, Medicine, Reproductive history, Genetic Predisposition to Disease, Retrospective Studies, 030219 obstetrics & reproductive medicine, business.industry, Obstetrics, Reproduction, Obstetrics and Gynecology, Retrospective cohort study, medicine.disease, Phenotype, Reproductive Health, 030104 developmental biology, Reproductive Medicine, Mutation, Menarche, Receptors, Calcitriol, Female, Familial Hypophosphatemic Rickets, Resistant rickets, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5dac330f526ddc5600805e8a4244b7beTest
https://doi.org/10.1016/j.fertnstert.2019.02.028Test

المؤلفون: Dov Tiosano, Michal Cohen, Ram Weiss, Clair Habib, Nina Ekhilevitch, Rana Halloun

المصدر: European journal of medical genetics. 64(8)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Developmental Disabilities, Hypoglycemia, Growth hormone deficiency, Hyperinsulinism, Genetics, medicine, Diazoxide, Endocrine system, Humans, Insulin, Genetics (clinical), business.industry, Genetic disorder, Infant, Proteins, General Medicine, Syndrome, medicine.disease, Phenotype, Mutation, Autism, Female, business, Hormone, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17bc276cba9de0ba224c0dd07f9597a0Test
https://pubmed.ncbi.nlm.nih.gov/34051361Test

المؤلفون: Federico Gulluni, Lorenzo Prever, Huayi Li, Petra Krafcikova, Ilaria Corrado, Wen-Ting Lo, Jean Piero Margaria, Anlu Chen, Maria Chiara De Santis, Sophie J. Cnudde, Joseph Fogerty, Alex Yuan, Alberto Massarotti, Nasrin Torabi Sarijalo, Oscar Vadas, Roger L. Williams, Marcus Thelen, David R. Powell, Markus Schueler, Michael S. Wiesener, Tamas Balla, Hagit N. Baris, Dov Tiosano, Brian M. McDermott, Brian D. Perkins, Alessandra Ghigo, Miriam Martini, Volker Haucke, Evzen Boura, Giorgio Roberto Merlo, David A. Buchner, Emilio Hirsch

المصدر: Science

مصطلحات موضوعية: Phosphatidylinositol 4,5-Diphosphate, Multidisciplinary, Endosomal Sorting Complexes Required for Transport, Calcium-Binding Proteins, Aging, Premature, Cell Cycle Proteins, macromolecular substances, Zebrafish Proteins, Phosphatidylinositols, Biological Evolution, Lipids, Cataract, Article, Cell Line, Mice, Phosphatidylinositol 3-Kinases, Tubulin, Lens, Crystalline, Mutation, Animals, Humans, Cellular Senescence, Zebrafish, Cytokinesis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13b7b8e4bf586cb0f98e5fc0fb47473fTest
http://hdl.handle.net/2318/1831621Test

المؤلفون: Nikolas Boy, Emma Wakeling, Julian A. Martinez, Lynn Pais, Qin Wang, Eva M. C. Schwaibold, Mariam Mathew, Katheryn Grand, Theresa Brunet, Małgorzata J.M. Nowaczyk, Matthew A Deardorff, Hane Lee, Ashita Dava-Wala, Kristin Lindstrom, Dana Brown, Kirsty McWalter, Matthew S. Kayser, Alina Kurolap, Yue Huang, Claudia Gonzaga-Jauregui, Elizabeth J. Bhoj, John Christodoulou, Hakon Hakonarson, Dov Tiosano, Amy Siemon, Tiong Yang Tan, Naihua N. Gong, Dennis Bartholomew, Yuanquan Song, Maria J. Guillen Sacoto, Hagit Baris Feldman, Dong Li, Susan M. White, Michael E. March, Daniela Choukair, Jane A. Hurst, Melanie Brugger, Theresa A. Grebe

مصطلحات موضوعية: Genetics, Microcephaly, Gene knockdown, Neurodevelopmental disorder, Mushroom bodies, Intellectual disability, medicine, Biology, medicine.disease, Phenotype, Loss function, Chromatin

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7eccfc99a21720f6a0e850c17e74a1e4Test
https://doi.org/10.1101/2020.10.26.20217109Test