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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 3, 2023. (Total: 223614Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Hyperplasia and HSD3B2[original query]
Refining hormonal diagnosis of type II 3beta-hydroxysteroid dehydrogenase deficiency in patients with premature pubarche and hirsutism based on HSD3B2 genotyping.
The Journal of clinical endocrinology and metabolism 2005 Mar 90 (3): 1287-93.
Mermejo Livia M, Elias Lucila L K, Marui S, Moreira Ayrton C, Mendonca Berenice B, de Castro Margar
Giant bilateral adrenal myelolipomas in two Chinese families with congenital adrenal hyperplasia.
Endocrine connections 2018 10 7 (11): 1136-41.
Liu Qiuli, Wang Lin-Ang, Su Jian, Tong Dali, Lan Weihua, Wang Luofu, Liu Gaolei, Zhang Jun, Zhang Victor Wei, Zhang Dianzheng, Chen Rongrong, Zhu Qingyi, Jiang J
Comprehensive genotyping of Turkish women with hirsutism.
Journal of endocrinological investigation 2019 2 42 (9): 1077-1087.
Polat S, Karaburgu S, Ünlühizarc? K, Dündar M, Özkul Y, Arslan Y K, Karaca Z, Kelestimur
Comprehensive Analysis of Congenital Adrenal Hyperplasia Using Long-Read Sequencing.
Clinical chemistry 2022 6 68 (7): 927-939.
Liu Yingdi, Chen Miaomiao, Liu Jing, Mao Aiping, Teng Yanling, Yan Huiming, Zhu Huimin, Li Zhuo, Liang Desheng, Wu Lingqi
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Frontiers in endocrinology 2023 6 14 1146768.
Nina Makretskaya, Natalia Kalinchenko, Inna Tebieva, Sofya Ionova, Rena Zinchenko, Andrey Marakhonov, Anatoly Tiulpak
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