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1دورية أكاديمية
المؤلفون: Jackmann, Natalja, Gustafsson, Jan, Utriainen, Pauliina, Magnusson, Per, Harila, Arja, Atanasova, Diana, Rinaldo, Carina, Frisk, Per, Mäkitie, Outi
مصطلحات موضوعية: biochemical markers of bone turnover: bone modeling and remodeling, tumor-induced bone disease: cancer, other: diseases and disorders of/related to bone, Pediatrics, Pediatrik, Cancer and Oncology, Cancer och onkologi, Hematology, Hematologi
وصف الملف: application/pdf
العلاقة: 2024, 8:4; JBMR Plus, 2024, 8:4; orcid:0000-0003-2817-3299; orcid:0000-0002-7540-438x; orcid:0000-0003-2767-5828; orcid:0000-0002-4547-001X; http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527482Test; PMID 38523666; ISI:001203149800001
الإتاحة: https://doi.org/10.1093/jbmrpl/ziae017Test
http://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-527482Test -
2دورية أكاديمية
المؤلفون: Costa, Adriana, Martins, Andreia, Machado, Catarina, Lundberg, Elena, Nilsson, Ola, Wang, Fan, Costantini, Alice, Tournis, Symeon, Höppner, Jakob, Grasemann, Corinna, Mäkitie, Outi
مصطلحات موضوعية: Early-onset osteoporosis, Fragility fractures, Osteoporosis in children, PLS3, Medical Genetics, Medicinsk genetik, Orthopaedics, Ortopedi
وصف الملف: application/pdf
العلاقة: Calcified Tissue International, 0171-967X, 2024, 114, s. 57-170; http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-217719Test; PMID 38043102; ISI:001121900600003; Scopus 2-s2.0-85178465247
الإتاحة: https://doi.org/10.1007/s00223-023-01162-4Test
http://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-217719Test -
3دورية أكاديمية
المؤلفون: Knol, Maria J, Poot, Raymond A, Evans, Tavia E, Satizabal, Claudia L, Mishra, Aniket, Sargurupremraj, Muralidharan, van der Auwera, Sandra, Duperron, Marie-Gabrielle, Jian, Xueqiu, Hostettler, Isabel C, van Dam-Nolen, Dianne H K, Lamballais, Sander, Pawlak, Mikolaj A, Lewis, Cora E, Carrion-Castillo, Amaia, van Erp, Theo G M, Reinbold, Céline S, Shin, Jean, Scholz, Markus, HÃ¥berg, Asta K, Kämpe, Anders, Li, Gloria H Y, Avinun, Reut, Atkins, Joshua R, Hsu, Fang-Chi, Amod, Alyssa R, Lam, Max, Tsuchida, Ami, Teunissen, Mariël W A, Aygün, Nil, Patel, Yash, Liang, Dan, Beiser, Alexa S, Beyer, Frauke, Bis, Joshua C, Bos, Daniel, Bryan, R Nick, Bülow, Robin, Caspers, Svenja, Catheline, Gwenaëlle, Cecil, Charlotte A M, Dalvie, Shareefa, Dartigues, Jean-François, DeCarli, Charles, Enlund-Cerullo, Maria, Ford, Judith M, Franke, Barbara, Freedman, Barry I, Friedrich, Nele, Green, Melissa J, Haworth, Simon, Helmer, Catherine, Hoffmann, Per, Homuth, Georg, Ikram, M Kamran, Jack, Clifford R, Jahanshad, Neda, Jockwitz, Christiane, Kamatani, Yoichiro, Knodt, Annchen R, Li, Shuo, Lim, Keane, Longstreth, W T, Macciardi, Fabio, Mäkitie, Outi, Mazoyer, Bernard, Medland, Sarah E, Miyamoto, Susumu, Moebus, Susanne, Mosley, Thomas H, Muetzel, Ryan, Mühleisen, Thomas W, Nagata, Manabu, Nakahara, Soichiro, Palmer, Nicholette D, Pausova, Zdenka, Preda, Adrian, Quidé, Yann, Reay, William R, Roshchupkin, Gennady V, Schmidt, Reinhold, Schreiner, Pamela J, Setoh, Kazuya, Shapland, Chin Yang, Sidney, Stephen, St Pourcain, Beate, Stein, Jason L, Tabara, Yasuharu, Teumer, Alexander, Uhlmann, Anne, van der Lugt, Aad, Vernooij, Meike W, Werring, David J, Windham, B Gwen, Witte, A Veronica, Wittfeld, Katharina, Yang, Qiong, Yoshida, Kazumichi, Brunner, Han G, Le Grand, Quentin, Sim, Kang, Stein, Dan J, Bowden, Donald W, Cairns, Murray J, Hariri, Ahmad R, Cheung, Ching-Lung, Andersson, Sture, Villringer, Arno, Paus, Tomas, Cichon, Sven, Calhoun, Vince D, Crivello, Fabrice, Launer, Lenore J, White, Tonya, Koudstaal, Peter J, Houlden, Henry, Fornage, Myriam, Matsuda, Fumihiko, Grabe, Hans J, Ikram, M Arfan, Debette, Stéphanie, Thompson, Paul M, Seshadri, Sudha, Adams, Hieab H H
المصدر: Journal Articles
مصطلحات موضوعية: cancer, genetics, genome-wide association study, head circumference, head size, intracranial volume, meta-analysis, Genetics and Genomics, Life Sciences, Medicine and Health Sciences, Other Genetics and Genomics, Public Health
وصف الملف: application/pdf
العلاقة: https://digitalcommons.library.tmc.edu/uthsph_docs/261Test; https://digitalcommons.library.tmc.edu/context/uthsph_docs/article/1250/viewcontent/PIIS2666379124001988.pdfTest
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4دورية أكاديمية
المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi
المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc
المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity
العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681
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5دورية أكاديمية
المؤلفون: Costantini, Alice, Alm, Jessica J, Tonelli, Francesca, Valta, Helena, Huber, Céline, Tran, Anh N, Daponte, Valentina, Kirova, Nadi, Kwon, Yong-Uk, Bae, Jung Yun, Chung, Woo Yeong, Tan, Shengjiang, Sznajer, Yves, Nishimura, Gen, Näreoja, Tuomas, Warren, Alan J, Cormier-Daire, Valérie, Kim, Ok-Hwa, Forlino, Antonella, Cho, Tae-Joon, Mäkitie, Outi
المساهمون: UCL - (SLuc) Centre de génétique médicale UCL, UCL - (SLuc) Centre de référence neuromusculaire, UCL - SSS/IREC/SLUC - Pôle St.-Luc
المصدر: Journal of bone and mineral research, Vol. 36, no. 2, p. 283-297 (2021)
مصطلحات موضوعية: Animals, Biological Variation, Population, Humans, Neoplasm Proteins, Osteochondrodysplasias, Pedigree, Ribosomal Proteins, Spine, Zebrafish, CRISPR-CAS9, RPL13, Incomplete penetrance, Ribosomopathy, Spondyloepimetaphyseal dysplasia, Variable expressivity
العلاقة: boreal:261829; http://hdl.handle.net/2078.1/261829Test; info:pmid/32916022; urn:ISSN:0884-0431; urn:EISSN:1523-4681
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6دورية أكاديمية
المؤلفون: Bishop, Nick, Adami, Silvano, Ahmed, S Faisal, Antón, Jordi, Arundel, Paul, Burren, Christine P., Devogelaer, Jean-Pierre, Hangartner, Thomas, Hosszú, Eva, Lane, Joseph M, Lorenc, Roman, Mäkitie, Outi, Munns, Craig F, Paredes, Ana, Pavlov, Helene, Plotkin, Horacio, Raggio, Cathleen L., Reyes, Maria Loreto, Schoenau, Eckhard, Semler, Oliver, Sillence, David O., Steiner, Robert D.
المساهمون: UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie
المصدر: The Lancet, Vol. 382, no. 9902, p. 1424-1432 (2013)
العلاقة: boreal:164058; http://hdl.handle.net/2078.1/164058Test; info:pmid/23927913; urn:ISSN:0140-6736; urn:EISSN:1474-547X
الإتاحة: https://doi.org/10.1016/S0140-6736Test(13)61091-0
http://hdl.handle.net/2078.1/164058Test -
7دورية أكاديمية
المؤلفون: Bishop, Nick, Adami, Silvano, Ahmed, S Faisal, Antón, Jordi, Arundel, Paul, Burren, Christine P., Devogelaer, Jean-Pierre, Hangartner, Thomas, Hosszú, Eva, Lane, Joseph M, Lorenc, Roman, Mäkitie, Outi, Munns, Craig F, Paredes, Ana, Pavlov, Helene, Plotkin, Horacio, Raggio, Cathleen L., Reyes, Maria Loreto, Schoenau, Eckhard, Semler, Oliver, Sillence, David O., Steiner, Robert D.
المساهمون: UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de rhumatologie
المصدر: The Lancet, Vol. 382, no. 9902, p. 1424-1432 (2013)
العلاقة: boreal:164058; http://hdl.handle.net/2078.1/164058Test; info:pmid/23927913; urn:ISSN:0140-6736; urn:EISSN:1474-547X
الإتاحة: https://doi.org/10.1016/S0140-6736Test(13)61091-0
http://hdl.handle.net/2078.1/164058Test -
8دورية أكاديمية
المؤلفون: Korvala, Johanna, Jüppner, Harald, Mäkitie, Outi, Sochett, Etienne, Schnabel, Dirk, Mora, Stefano, Bartels, Cynthia F, Warman, Matthew L, Deraska, Donald, Cole, William G, Hartikka, Heini, Ala-Kokko, Leena, Männikkö, Minna
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Animals, Bone Density, CHO Cells, Cricetinae, Cricetulus, Genes, Reporter, Heterozygote, Humans, Low Density Lipoprotein Receptor-Related Protein-5, Mutation, Missense, Osteogenesis Imperfecta, Osteoporosis, Phenotype, Real-Time Polymerase Chain Reaction, Receptors, Serotonin, Transfection, Tryptophan Hydroxylase, Wnt Proteins, Wnt Signaling Pathway, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1331Test; https://pubmed.ncbi.nlm.nih.gov/22487062Test/
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9دورية أكاديمية
المؤلفون: Korvala, Johanna, Löija, Marika, Mäkitie, Outi, Sochett, Etienne, Jüppner, Harald, Schnabel, Dirk, Mora, Stefano, Cole, William G, Ala-Kokko, Leena, Männikkö, Minna
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Adolescent, Animals, CHO Cells, Case-Control Studies, Child, Cricetinae, Cricetulus, Female, Genetic Loci, Genetic Predisposition to Disease, Heterozygote, Humans, Intercellular Signaling Peptides and Proteins, Male, Osteoporosis, Polymorphism, Genetic, Transcription, Wnt Signaling Pathway, Wnt3A Protein, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1334Test; https://pubmed.ncbi.nlm.nih.gov/22789636Test/
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10دورية أكاديمية
المؤلفون: Jakkula, Eveliina, Mäkitie, Outi, Czarny-Ratajczak, Malwina, Jackson, Gail C, Damignani, Rita, Susic, Miki, Briggs, Michael D, Cole, William G, Ala-Kokko, Leena
المصدر: Department of Pathology & Laboratory Medicine
مصطلحات موضوعية: Adolescent, Adult, Anion Transport Proteins, Carrier Proteins, Cartilage Oligomeric Matrix Protein, Child, Preschool, Collagen Type IX, DNA Mutational Analysis, Extracellular Matrix Proteins, Female, Glycoproteins, Humans, Male, Matrilin Proteins, Membrane Transport Proteins, Mutation, Osteochondrodysplasias, Phenotype, RNA, Radiography, Sulfate Transporters, Department of Pathology and Laboratory Medicine, Medicine and Health Sciences
العلاقة: https://scholarlyworks.lvhn.org/pathology-laboratory-medicine/1294Test; https://pubmed.ncbi.nlm.nih.gov/15523498Test/