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

المساهمون: HUS Children and Adolescents, Clinicum, Lastentautien yksikkö, Children's Hospital

مصطلحات موضوعية: PHOSPHATE HOMEOSTASIS, HYPOPHOSPHATEMIA, OSTEOMALACIA AND RICKETS, PARATHYROID HORMONE, VITAMIN D, FIBROBLAST GROWTH FACTOR 23, X-LINKED HYPOPHOSPHATEMIA, SERUM PHOSPHORUS, METABOLISM, RICKETS, GROWTH, ADULTS, ABNORMALITIES, MECHANISMS, EXPERIENCE, MANAGEMENT, 3121 General medicine, internal medicine and other clinical medicine

وصف الملف: application/pdf

العلاقة: Open access funding enabled and organized by Projekt DEAL.; 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; ORCID: /0000-0002-4547-001X/work/155651742; http://hdl.handle.net/10138/353305Test; 03c71e18-088b-4010-924e-7f4bbb357f7c; 000733646600001

الإتاحة: http://hdl.handle.net/10138/353305Test

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

المصدر: Pediatric Rheumatology ; volume 21, issue 1 ; ISSN 1546-0096

مصطلحات موضوعية: Immunology and Allergy, Rheumatology, Pediatrics, Perinatology and Child Health

الإتاحة: https://doi.org/10.1186/s12969-023-00813-yTest

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

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

العلاقة: https://research.vumc.nl/en/publications/e90e0209-ec2a-477c-abd7-9e810f30c984Test

الإتاحة: https://doi.org/10.1002/jbmr.4486Test
https://research.vumc.nl/en/publications/e90e0209-ec2a-477c-abd7-9e810f30c984Test
http://www.scopus.com/inward/record.url?scp=85121656475&partnerID=8YFLogxKTest

المؤلفون: Levy-Shraga, Yael, Levi, Shelly, Regev, Ravit, Gal, Shoshana, Brener, Avivit, Lebenthal, Yael, Gillis, David, Strich, David, Zung, Amnon, Cleper, Roxana, Borovitz, Yael, Bello, Rachel, Tenenbaum, Ariel, Zadik, Zvi, Davidovits, Miriam, Zeitlin, Leonid, Tiosano, Dov

المصدر: European Journal of Pediatrics; Nov2023, Vol. 182 Issue 11, p5191-5202, 12p

مصطلحات موضوعية: GROWTH of children, HYPOPHOSPHATEMIA, SOMATOTROPIN, CHILD patients, SCIENTIFIC observation

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

مصطلحات موضوعية: info:eu-repo/classification/ddc

وصف الملف: application/pdf

العلاقة: https://mediatum.ub.tum.de/1650351Test; https://mediatum.ub.tum.de/doc/1650351/document.pdfTest

الإتاحة: https://doi.org/10.1126/sciadv.abf2066Test
https://mediatum.ub.tum.de/1650351Test
https://mediatum.ub.tum.de/doc/1650351/document.pdfTest

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

مصطلحات موضوعية: HYPOPHOSPHATEMIA, OSTEOMALACIA AND RICKETS, PARATHYROID HORMONE/VITAMIN D/FIBROBLAST GROWTH FACTOR 23, PHOSPHATE HOMEOSTASIS, Adolescent, Adult, Familial Hypophosphatemic Rickets, Fibroblast Growth Factors, Humans, Osteomalacia, Phosphates, Quality of Life

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10668/22139Test; PMC9306528; https://helda.helsinki.fi/bitstream/10138/353305/1/J_of_Bone_Mineral_Res_2021_Aljuraibah_An_Expert_Perspective_on_Phosphate_Dysregulation_With_a_Focus_on_Chronic.pdfTest; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306528/pdfTest

الإتاحة: https://doi.org/10.1002/jbmr.4486Test
http://hdl.handle.net/10668/22139Test
https://helda.helsinki.fi/bitstream/10138/353305/1/J_of_Bone_Mineral_Res_2021_Aljuraibah_An_Expert_Perspective_on_Phosphate_Dysregulation_With_a_Focus_on_Chronic.pdfTest
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9306528/pdfTest

المؤلفون: Tiosano, Dov, Abrams, Steven A, Weisman, Yoseph

المصدر: The Journal of Nutrition ; volume 151, issue 3, page 473-481 ; ISSN 0022-3166

مصطلحات موضوعية: Nutrition and Dietetics, Medicine (miscellaneous)

الإتاحة: https://doi.org/10.1093/jn/nxaa380Test
https://api.elsevier.com/content/article/PII:S0022316622000785?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022316622000785?httpAccept=text/plainTest
http://academic.oup.com/jn/article-pdf/151/3/473/36547355/nxaa380.pdfTest

المؤلفون: Lin, Yuh-Charn, Niceta, Marcello, Muto, Valentina, Vona, Barbara, Pagnamenta, Alistair T., Maroofian, Reza, Beetz, Christian, van Duyvenvoorde, Hermine, Dentici, Maria Lisa, Lauffer, Peter, Vallian, Sadeq, Ciolfi, Andrea, Pizzi, Simone, Bauer, Peter, Grüning, Nana-Maria, Bellacchio, Emanuele, Del Fattore, Andrea, Petrini, Stefania, Shaheen, Ranad, Tiosano, Dov, Halloun, Rana, Pode-Shakked, Ben, Albayrak, Hatice Mutlu, Işık, Emregül, Wit, Jan M., Dittrich, Marcus, Freire, Bruna L., Bertola, Debora R., Jorge, Alexander A.L., Barel, Ortal, Sabir, Ataf H., Al Tenaiji, Amal M.J., Taji, Sulaima M., Al-Sannaa, Nouriya, Al-Abdulwahed, Hind, Digilio, Maria Cristina, Irving, Melita, Anikster, Yair, Bhavani, Gandham S.L., Girisha, Katta M., Haaf, Thomas, Taylor, Jenny C., Dallapiccola, Bruno, Alkuraya, Fowzan S., Yang, Ruey-Bing, Tartaglia, Marco

المساهمون: Academia Sinica, Fondazione Bambino Gesù

المصدر: The American Journal of Human Genetics ; volume 108, issue 1, page 115-133 ; ISSN 0002-9297

مصطلحات موضوعية: Genetics (clinical), Genetics

الإتاحة: https://doi.org/10.1016/j.ajhg.2020.11.015Test
https://api.elsevier.com/content/article/PII:S0002929720304122?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0002929720304122?httpAccept=text/plainTest

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

المصدر: Cohen, Michal; Pignatti, Emanuele; Dines, Monica; Mory, Adi; Ekhilevitch, Nina; Kolodny, Rachel; Flück, Christa E.; Tiosano, Dov (2020). In Silico Structural and Biochemical Functional Analysis of a Novel CYP21A2 Pathogenic Variant. International journal of molecular sciences, 21(16) MDPI 10.3390/ijms21165857

مصطلحات موضوعية: 610 Medicine & health, 570 Life sciences, biology

وصف الملف: application/pdf

العلاقة: https://boris.unibe.ch/150411Test/

الإتاحة: https://doi.org/10.3390/ijms21165857Test
https://boris.unibe.ch/150411/1/ijms-21-05857-v2.pdfTest
https://boris.unibe.ch/150411Test/

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

المساهمون: Kyowa Kirin International

المصدر: Journal of Bone and Mineral Research ; volume 37, issue 1, page 12-20 ; ISSN 0884-0431 1523-4681

مصطلحات موضوعية: Orthopedics and Sports Medicine, Endocrinology, Diabetes and Metabolism

الإتاحة: https://doi.org/10.1002/jbmr.4486Test
https://academic.oup.com/jbmr/article-pdf/37/1/12/55459550/jbmr4486.pdfTest