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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 4 (of 4 Records)

Query Trace: Disease and AVPR2[original query]
Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).
Best practice & research. Clinical endocrinology & metabolism 2016 Mar 30 (2): 263-76.
Bichet Daniel G, Bockenhauer Detl
Integrating Population Variants and Protein Structural Analysis to Improve Clinical Genetic Diagnosis and Treatment in Nephrogenic Diabetes Insipidus.
Frontiers in pediatrics 2021 5 9 566524.
Liao Panli, Xiang Tianchao, Li Hongxia, Fang Ye, Fang Xiaoyan, Zhang Zhiqing, Cao Qi, Zhai Yihui, Chen Jing, Xu Linan, Liu Jialu, Tang Xiaoshan, Liu Xiaorong, Wang Xiaowen, Luan Jiangwei, Shen Qian, Chen Lizhi, Jiang Xiaoyun, Ma Duan, Xu Hong, Rao J
X-linked genetic risk factors that promote autoimmunity and dampen remyelination are associated with multiple sclerosis susceptibility.
Multiple sclerosis and related disorders 2022 7 66 104065.
Borziak Kirill, Finkelstein Jose
Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study.
Urology journal 2024 12 .
Sevim Yener, Metin Es
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