Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Rickets and SLC34A3[original query] |
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Mutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis. Journal of the American Society of Nephrology : JASN 2014 Oct 25 (10): 2366-75. Dasgupta Debayan, Wee Mark J, Reyes Monica, Li Yuwen, Simm Peter J, Sharma Amita, Schlingmann Karl-Peter, Janner Marco, Biggin Andrew, Lazier Joanna, Gessner Michaela, Chrysis Dionisios, Tuchman Shamir, Baluarte H Jorge, Levine Michael A, Tiosano Dov, Insogna Karl, Hanley David A, Carpenter Thomas O, Ichikawa Shoji, Hoppe Bernd, Konrad Martin, Sävendahl Lars, Munns Craig F, Lee Hang, Jüppner Harald, Bergwitz Cleme |
Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications. European journal of endocrinology / European Federation of Endocrine Societies 2015 Nov . Rafaelsen Silje Hjorth, Johansson Stefan, Raeder Helge, Bjerknes Robe |
Renal phosphate handling and inherited disorders of phosphate reabsorption: an update. Pediatric nephrology (Berlin, Germany) 2017 12 34 (4): 549-559. Wagner Carsten A, Rubio-Aliaga Isabel, Hernando Na |
SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria. Journal of clinical research in pediatric endocrinology 2018 5 10 (4): 343-349. Hasani-Ranjbar Shirin, Ejtahed Hanieh-Sadat, Amoli Mahsa M., Bitarafan Fatemeh, Qorbani Mostafa, Soltani Akbar, Yarjoo Bahar |
[Mutation analysis of four pedigrees affected with hypophosphatemic rickets through targeted next-generation sequencing]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018 10 35 (5): 638-643. Bai Ying, Liu Ning, Shao Mingwei, Qin Guijun, Gao Xu, Kong Xiangdo |
Identification of six novel variants from nine Chinese families with hypophosphatemic rickets. BMC medical genomics 2022 7 15 (1): 161. Cao Yixuan, You Yi, Wang Qiong, Ren Xiuzhi, Li Shan, Li Lulu, Xia Weibo, Guan Xin, Yang Tao, Ikegawa Shiro, Wang Zheng, Zhao Xiu |
Exome Sequencing in Monogenic Forms of Rickets. Indian journal of pediatrics 2023 1 . Jacob Prince, Bhavani Gandham SriLakshmi, Udupa Prajna, Wang Zheng, Hariharan Sankar V, Delampady Kishan, Dalal Ashwin, Kamath Nutan, Ikegawa Shiro, Shenoy Rathika D, Handattu Koushik, Shah Hitesh, Girisha Katta |
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- Page last updated:Apr 22, 2024
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