Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and PHEX[original query] |
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| Targeted resequencing of phosphorus metabolism?related genes in 86 patients with hypophosphatemic rickets/osteomalacia. International journal of molecular medicine 2018 6 42 (3): 1603-1614. Gu Jiemei, Wang Chun, Zhang Hao, Yue Hua, Hu Weiwei, He Jinwei, Fu Wenzhen, Zhang Zhenl |
| Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. Journal of inherited metabolic disease 2018 2 41 (5): 865-876. Chesher Douglas, Oddy Michael, Darbar Ulpee, Sayal Parag, Casey Adrian, Ryan Aidan, Sechi Annalisa, Simister Charlotte, Waters Aoife, Wedatilake Yehani, Lachmann Robin H, Murphy Elai |
| [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 |
| Pulp chamber features, prevalence of abscesses, disease severity, and PHEX mutation in X-linked hypophosphatemic rickets. Journal of bone and mineral metabolism 2020 8 39 (2): 212-223. Baroncelli Giampiero I, Zampollo Elisa, Manca Mario, Toschi Benedetta, Bertelloni Silvano, Michelucci Angela, Isola Alessandro, Bulleri Alessandra, Peroni Diego, Giuca Maria Ri |
| Prevalence and clinical characteristics of X-linked hypophosphatemia in Paraná, southern Brazil. Archives of endocrinology and metabolism 2020 10 64 (6): 796-802. Moreira Carolina Aguiar, Costa Tatiana M R Lemos, Marques Julia Vieira Oberger, Sylvestre Lucimary, Almeida Ana Cristina R, Maluf Eliane M C P, Borba Victória Z |
| 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 |
| Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. Open life sciences 2024 5 19 (1): 20220853. Jinshui He, Shuyun Zhang, Yueya Kang, Yugui Zhang, Zhugui Zheng, Minyi Ru |
| Disease Manifestations and Complications in Dutch X-Linked Hypophosphatemia Patients. Calcified tissue international 2024 1 . A Bosman, N M Appelman-Dijkstra, A M Boot, M H de Borst, A C van de Ven, R T de Jongh, A Bökenkamp, J P van den Bergh, B C J van der Eerden, M C Zillike |
- Page last reviewed:Feb 1, 2024
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