Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Osteogenesis Imperfecta and FKBP10[original query] |
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| Osteogenesis imperfecta type 3 in South Africa: Causative mutations in FKBP10. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde 2017 Apr 107 (5): 457-462. Vorster Alvera, Beighton Peter, Chetty Manogari, Ganie Yasmeen, Henderson Bertram, Honey Engela, Maré Piet, Thompson David, Fieggen Karen, Viljoen Denis, Ramesar Rajkum |
| Novel Mutations in PLOD2 Cause Rare Bruck Syndrome. Calcified tissue international 2017 11 102 (3): 296-309. Lv Fang, Xu Xiaojie, Song Yuwen, Li Lujiao, Asan , Wang Jian, Yang Huanming, Wang Ou, Jiang Yan, Xia Weibo, Xing Xiaoping, Li M |
| Diagnostic strategies and genotype-phenotype correlation in a large Indian cohort of osteogenesis imperfecta. Bone 2018 3 110 368-377. Mrosk Julia, Bhavani Gandham SriLakshmi, Shah Hitesh, Hecht Jochen, Krüger Ulrike, Shukla Anju, Kornak Uwe, Girisha Katta Moh |
| Osteogenesis imperfecta in Brazilian patients. Genetics and molecular biology 2019 8 42 (2): 344-350. Trancozo Maira, Moraes Marcos V D, Silva Dalila A, Soares Jéssica A M, Barbirato Clara, Almeida Márcio G, Santos Lígia R, Rebouças Maria R G O, Akel Akel N, Sipolatti Valentim, Nunes Vanda R R, Errera Flavia I V, Aguena Meire, Passos-Bueno Maria R, Paula Flavia |
| Genotypic and Phenotypic Analysis in Chinese Cohort With Autosomal Recessive Osteogenesis Imperfecta. Frontiers in genetics 2020 10 11 984. Li Shan, Cao Yixuan, Wang Han, Li Lulu, Ren Xiuzhi, Mi Huan, Wang Yanzhou, Guan Yun, Zhao Feiyue, Mao Bin, Yang Tao, You Yi, Guan Xin, Yang Yujiao, Zhang Xue, Zhao Xiu |
| Genotype-Phenotype Relationship and Follow-up Analysis of a Chinese Cohort With Osteogenesis Imperfecta. Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists 2022 May . Wei Shuoshuo, Yao Yangyang, Shu Meng, Gao Ling, Zhao Jiajun, Li Tianyou, Wang Yanzhou, Xu Ch |
| Genotype and Phenotype Correlation of Patients with Osteogenesis Imperfecta. The Journal of molecular diagnostics : JMD 2024 7 . Lamiya Aliyeva, Yasemin Denkboy Ongen, Erdal Eren, Mehmet Bartu Sarisozen, Adem Alemdar, Sehime G Temel, Sebnem Ozemri S |
| Molecular Genetic Diagnosis with Targeted Next Generation Sequencing in a Cohort of Turkish Osteogenesis Imperfecta Patients and Their Genotype-phenotype Correlation. Journal of clinical research in pediatric endocrinology 2024 6 . Samim Özen, Damla Gök?en, Ferda Evin, Esra I??k, Hüseyin Onay, Bilça? Akgün, Aysun Ata, Tahir Atik, Füsun Düzcan, Ferda Özk?nay, ?ükran Darcan, Özgür Ço?u |
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