Human Genome Epidemiology Literature Finder
Records 1 - 7 (of 7 Records) |
Query Trace: Abnormalities and SON[original query] |
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The KCNJ8-S422L variant previously associated with J-wave syndromes is found at an increased frequency in Ashkenazi Jews. European journal of human genetics : EJHG 2014 Jan 22 (1): 94-8. Veeramah Krishna R, Karafet Tatiana M, Wolf Daniel, Samson Ricardo A, Hammer Michael |
[Congenital hypofibrinogenemia associated with a novel mutation in FGG gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2015 Jun 32 (3): 331-4. Wang Yingyu, Ding Hongxiang, Hao Xiuping, Zhu Liqing, Yang Lihong, Jin Yanhui, Wang Mingsh |
Direct and indirect gene diagnosis of hemophilia A pedigrees in the Chinese population. Molecular medicine reports 2017 8 16 (4): 5722-5728. Cao Ying, Shen Luxi, Huang Rong, Yang Lingcong, Du Zhuanyun, Ma Hua, Zheng Tianjin, Gu Haihua, Li Hongz |
Non-Penetrance for Ocular Phenotype in Two Individuals Carrying Heterozygous Loss-of-Function ZEB1 Alleles. Genes 2021 5 12 (5): . Dudakova Lubica, Stranecky Viktor, Piherova Lenka, Palecek Tomas, Pontikos Nikolas, Kmoch Stanislav, Skalicka Pavlina, Vaneckova Manuela, Davidson Alice E, Liskova Pet |
Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion. Child neurology open 2022 4 9 2329048X221093173. Birca Veronica, Myers Kenneth |
A genotype-first analysis in a cohort of Mullerian anomaly. Journal of human genetics 2022 1 67 (6): 347-352. Tian Weijie, Chen Na, Ye Yang, Ma Congcong, Qin Chenglu, Niu Yuchen, Xiaoxin L, Zhao Lina, Zhao Hengqiang, Liang Ze, Song Shuang, Wang Yuan, Chen Zefu, Lin Jiachen, Yan Zihui, Duan Jiali, Zhao Sen, Zhang Terry Jianguo, Qiu Guixing, Wu Zhihong, Wu Nan, Zhu L |
Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series. Neurology. Genetics 2023 5 9 (3): e200072. Angie El-Said, Jorge Luis Morales, Gian Rossi, Neha Longa |
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- Page last updated:Apr 22, 2024
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