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1دورية أكاديمية
المؤلفون: Petra Loid, Helena Hauta-alus, Outi Mäkitie, Per Magnusson, Riikka E. Mäkitie
المصدر: Frontiers in Endocrinology, Vol 13 (2022)
مصطلحات موضوعية: lipocalin-2, monogenic osteoporosis, bone biomarkers, FGF23, PLS3, WNT1, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fendo.2022.954730/fullTest; https://doaj.org/toc/1664-2392Test
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2دورية أكاديمية
المؤلفون: Annemieke M. Boot, Gema Ariceta, Signe Sparre Beck-Nielsen, Maria Luisa Brandi, Karine Briot, Carmen de Lucas Collantes, Sandro Giannini, Dieter Haffner, Richard Keen, Elena Levtchenko, M. Zulf Mughal, Outi Makitie, Ola Nilsson, Dirk Schnabel, Liana Tripto-Shkolnik, M. Carola Zillikens, Jonathan Liu, Alina Tudor, Francesco Emma
المصدر: Therapeutic Advances in Chronic Disease, Vol 15 (2024)
مصطلحات موضوعية: Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2040-6231Test
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3دورية أكاديمية
المؤلفون: Mehran Kausar, Noor Ul Ain, Farzana Hayat, Hunain Fatima, Saad Azim, Hazrat Ullah, Murva Mushtaq, Sumbal Khalid, Shahid Hussain, Sadaf Naz, Jamal Janjua, Saad Bin Amjad, Ruqia Mehmood Baig, Outi Makitie, Raheel Qamar, Shiro Ikegawa, Nishimura Gen, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi
المصدر: BMC Musculoskeletal Disorders, Vol 23, Iss 1, Pp 1-7 (2022)
مصطلحات موضوعية: Spondyloepiphyseal dysplasia, Short stature, Chondroitin, CHST3, Pakistan, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2474Test
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4دورية أكاديمية
المؤلفون: Noor ul Ain, Zunaira Fatima, Sadaf Naz, Outi Makitie
المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-6 (2021)
مصطلحات موضوعية: Skeletal dysplasia, Short stature, Whole genome sequencing, Smith-McCort dysplasia, MOPDII, Pakistan, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2474Test
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5دورية أكاديمية
المؤلفون: Samina Yasin, Outi Makitie, Sadaf Naz
المصدر: BMC Musculoskeletal Disorders, Vol 22, Iss 1, Pp 1-6 (2021)
مصطلحات موضوعية: Carpal synostosis, Scoliosis, Exome sequencing, Pakistan, Case report, Diseases of the musculoskeletal system, RC925-935
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2474Test
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6دورية أكاديمية
المؤلفون: Raja Padidela, Ola Nilsson, Outi Makitie, Signe Beck-Nielsen, Gema Ariceta, Dirk Schnabel, Maria Luisa Brandi, Annemieke Boot, Elena Levtchenko, Michael Smyth, Ravi Jandhyala, Zulf Mughal
المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-11 (2020)
مصطلحات موضوعية: X-linked hypophosphataemia (XLH), Rare disease, Patient registry, Vitamin D, Disease history, Post-authorisation safety, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13023-020-01434-4Test; https://doaj.org/toc/1750-1172Test
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7دورية أكاديمية
المؤلفون: Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
المصدر: Journal of Biomedical Science, Vol 25, Iss 1, Pp 1-10 (2018)
مصطلحات موضوعية: WNT signaling, Whole-exome sequencing, Osteoporosis, Osteogenesis imperfecta, Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12929-018-0481-xTest; https://doaj.org/toc/1423-0127Test
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8دورية أكاديمية
المؤلفون: Mehran Kausar, Elaine Guo Yan Chew, Hazrat Ullah, Mariam Anees, Chiea Chuen Khor, Jia Nee Foo, Outi Makitie, Saima Siddiqi
المصدر: Frontiers in Genetics, Vol 10 (2019)
مصطلحات موضوعية: spondyloocular syndrome (SOS), whole-exome-sequencing (WES), osteoporosis, xylosyltransferase II (XYLT2), cataract, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/article/10.3389/fgene.2019.00144/fullTest; https://doaj.org/toc/1664-8021Test
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9دورية أكاديمية
المؤلفون: Mehran Kausar, Saima Siddiqi, Muhammad Yaqoob, Sajid Mansoor, Outi Makitie, Asif Mir, Chiea Chuen Khor, Jia Nee Foo, Mariam Anees
المصدر: Journal of Biomedical Science, Vol 26, Iss 1, Pp 1-1 (2019)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s12929-019-0525-xTest; https://doaj.org/toc/1423-0127Test
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10
المؤلفون: Sheila Unger, Carlos R. Ferreira, Geert R. Mortier, Houda Ali, Débora R. Bertola, Alistair Calder, Daniel H. Cohn, Valerie Cormier‐Daire, Katta M. Girisha, Christine Hall, Deborah Krakow, Outi Makitie, Stefan Mundlos, Gen Nishimura, Stephen P. Robertson, Ravi Savarirayan, David Sillence, Marleen Simon, V. Reid Sutton, Matthew L. Warman, Andrea Superti‐Furga
المصدر: American Journal of Medical Genetics Part A. 191:1164-1209
مصطلحات موضوعية: Genetics & Heredity, Science & Technology, NOMENCLATURE, Genetics, CONSTITUTIONAL DISORDERS, INTERNATIONAL CLASSIFICATION, BONE, Life Sciences & Biomedicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5b2aee4ca9842fa7a86142459840bbeTest
https://doi.org/10.1002/ajmg.a.63132Test