المؤلفون: Sheppard, Aaron J., Theng, Elizabeth H., Paravastu, Sriram S., Wojnowski, Natalia M., Farhadi, Faraz, Morris, Michael A., Hartley, Iris R., Gafni, Rachel I., Roszko, Kelly L., Collins, Michael T., Saboury, Babak

المصدر: Arteriosclerosis, Thrombosis & Vascular Biology; Jun2024, Vol. 44 Issue 6, p1432-1446, 15p

المؤلفون: Merchant, Nadia, Gafni, Rachel I.

المصدر: Feldman and Pike's Vitamin D ; page 303-325 ; ISBN 9780323913386

الإتاحة: https://doi.org/10.1016/b978-0-323-91338-6.00015-xTest
https://api.elsevier.com/content/article/PII:B978032391338600015X?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:B978032391338600015X?httpAccept=text/plainTest

المؤلفون: Clegg, Stephanie M, Eiel, Emily S, Fine, Sara, Gafni, Rachel I, Most, Mathew J

المساهمون: Orthopedics and Physical Rehabilitation, Pathology

المصدر: Case reports in orthopedics ; 2023 ; 5614065 ; United States

العلاقة: Case Reports in Orthopedics; https://doi.org/10.1155/2023/5614065Test; Clegg SM, Eiel ES, Fine S, Gafni RI, Most MJ. Atypical Fragility Fractures due to Bony or Soft Tissue Phosphaturic Mesenchymal Tumors: A Report of Two Cases. Case Rep Orthop. 2023 Apr 12;2023:5614065. doi:10.1155/2023/5614065. PMID: 37090040; PMCID: PMC10115527.; http://hdl.handle.net/20.500.14038/52130Test

الإتاحة: https://doi.org/10.1155/2023/5614065Test
https://doi.org/20.500.14038/52130Test
https://hdl.handle.net/20.500.14038/52130Test

المؤلفون: Theng, Elizabeth H., Brewer, Carmen C., Oheim, Ralf, Zalewski, Christopher K., King, Kelly A., Delsmann, Maximillian M., Rolvien, Tim, Gafni, Rachel I., Braddock, Demetrios T., Jeffrey Kim, H., Ferreira, Carlos R.

المساهمون: National Institutes of Health

المصدر: Orphanet Journal of Rare Diseases ; volume 17, issue 1 ; ISSN 1750-1172

مصطلحات موضوعية: Pharmacology (medical), Genetics (clinical), General Medicine

الإتاحة: https://doi.org/10.1186/s13023-022-02410-wTest

المؤلفون: Hartley, Iris R., Roszko, Kelly L., Li, Xiaobai, Pozo, Karen, Streit, Jamie, del Rivero, Jaydira, Magone, M. Teresa, Smith, Michaele R., Vold, Roo, Dambkowski, Carl L., Collins, Michael T., Gafni, Rachel I.

المساهمون: National Institute of Dental and Craniofacial Research

المصدر: JBMR Plus ; volume 6, issue 8 ; ISSN 2473-4039 2473-4039

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

الإتاحة: https://doi.org/10.1002/jbm4.10661Test

المؤلفون: Lim, Young H, Ovejero, Diana, Sugarman, Jeffrey S, Deklotz, Cynthia MC, Maruri, Ann, Eichenfield, Lawrence F, Kelley, Patrick K, Jüppner, Harald, Gottschalk, Michael, Tifft, Cynthia J, Gafni, Rachel I, Boyce, Alison M, Cowen, Edward W, Bhattacharyya, Nisan, Guthrie, Lori C, Gahl, William A, Golas, Gretchen, Loring, Erin C, Overton, John D, Mane, Shrikant M, Lifton, Richard P, Levy, Moise L, Collins, Michael T, Choate, Keith A

المصدر: Human molecular genetics. 23(2)

مصطلحات موضوعية: Skin, Humans, Nevus, Nevus, Pigmented, Skin Neoplasms, Osteomalacia, Hypophosphatemia, GTP Phosphohydrolases, Fibroblast Growth Factors, Membrane Proteins, Sequence Analysis, DNA, Gene Expression Regulation, Developmental, Mutation, Adolescent, Child, Female, Male, Proto-Oncogene Proteins p21(ras), Exome, Fibroblast Growth Factor-23, Kidney Disease, Rare Diseases, Genetics, 1.1 Normal biological development and functioning, 2.1 Biological and endogenous factors, Underpinning research, Aetiology, Biological Sciences, Medical and Health Sciences, Genetics & Heredity

وصف الملف: application/pdf

الوصول الحر: https://escholarship.org/uc/item/9hk6z282Test

المؤلفون: Ferreira, Carlos R, Kintzinger, Kristina, Hackbarth, Mary E, Botschen, Ulrike, Nitschke, Yvonne, Mughal, M Zulf, Baujat, Genevieve, Schnabel, Dirk, Yuen, Eric, Gahl, William A, Gafni, Rachel I, Liu, Qing, Huertas, Pedro, Khursigara, Gus, Rutsch, Frank

المساهمون: Inozyme Pharma, Inc., COST, National Institute of Dental and Craniofacial Research, National Human Genome Research Institute, European Cooperation in Science and Technology

المصدر: Journal of Bone and Mineral Research ; volume 36, issue 11, page 2193-2202 ; ISSN 0884-0431 1523-4681

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

الإتاحة: https://doi.org/10.1002/jbmr.4418Test
https://academic.oup.com/jbmr/article-pdf/36/11/2193/56738696/jbmr4418.pdfTest

المؤلفون: Lee, Alisa E, Chu, Emily Y, Gardner, Pamela J, Duverger, Olivier, Saikali, Amanda, Wang, Sean K, Gafni, Rachel I, Hartley, Iris R, Ten Hagen, Kelly G, Somerman, Martha J, Collins, Michael T

المساهمون: National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institute of Dental and Craniofacial Research

المصدر: JBMR Plus ; volume 5, issue 5 ; ISSN 2473-4039 2473-4039

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

الإتاحة: https://doi.org/10.1002/jbm4.10470Test

المؤلفون: Lee, Alisa E., Hartley, Iris R., Roszko, Kelly L., Vanek, Chaim, Gafni, Rachel I., Collins, Michael T.

المصدر: Frontiers in Dental Medicine ; volume 2 ; ISSN 2673-4915

الإتاحة: https://doi.org/10.3389/fdmed.2021.719752Test

المؤلفون: Ferreira, Carlos R., Hackbarth, Mary E., Ziegler, Shira G., Pan, Kristen S., Roberts, Mary S., Rosing, Douglas R., Whelpley, Margaret S., Bryant, Joy C., Macnamara, Ellen F., Wang, Sisi, Müller, Kerstin, Hartley, Iris R., Chew, Emily Y., Corden, Timothy E., Jacobsen, Christina M., Holm, Ingrid A., Rutsch, Frank, Dikoglu, Esra, Chen, Marcus Y., Mughal, M. Zulf, Levine, Michael A., Gafni, Rachel I., Gahl, William A.

المصدر: Genetics in Medicine ; volume 23, issue 2, page 396-407 ; ISSN 1098-3600

مصطلحات موضوعية: Genetics (clinical)

الإتاحة: https://doi.org/10.1038/s41436-020-00983-0Test
https://www.nature.com/articles/s41436-020-00983-0.pdfTest
https://www.nature.com/articles/s41436-020-00983-0Test
https://api.elsevier.com/content/article/PII:S1098360021025430?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1098360021025430?httpAccept=text/plainTest