Four novel variants identified in primary hyperoxaluria and genotypic and phenotypic analysis in 21 Chinese patients
Xin, Qing, Dong, Yameng, Guo, Wencong, Zhao, Xiangzhong, Liu, Zhiying, Shi, Xiaomeng, Lang, Yanhua, Shao, Leping
Published in Frontiers in genetics (17.04.2023)
Published in Frontiers in genetics (17.04.2023)
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Two novel AGXT mutations identified in primary hyperoxaluria type-1 and distinct morphological and structural difference in kidney stones
Wang, Cui, Lu, Jingru, Lang, Yanhua, Liu, Ting, Wang, Xiaoling, Zhao, Xiangzhong, Shao, Leping
Published in Scientific reports (20.09.2016)
Published in Scientific reports (20.09.2016)
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Three exonic variants in the COL4A5 gene alter RNA splicing in a minigene assay
Zhang, Ran, Lang, Yanhua, Shi, Xiaomeng, Zhang, Yiyin, Liu, Xuyan, Pan, Fengjiao, Qiao, Dan, Teng, Xin, Shao, Leping
Published in Molecular genetics & genomic medicine (01.02.2024)
Published in Molecular genetics & genomic medicine (01.02.2024)
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Identification of a novel TSC2 c.3610G > A, p.G1204R mutation contribute to aberrant splicing in a patient with classical tuberous sclerosis complex: a case report
Zhang, Ruixiao, Wang, Jianhong, Wang, Qing, Han, Yue, Liu, Xuejun, Bottillo, Irene, Lang, Yanhua, Shao, Leping
Published in BMC medical genetics (20.09.2018)
Published in BMC medical genetics (20.09.2018)
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A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria
Zhao, Xiangzhong, Cui, Li, Lang, Yanhua, Liu, Ting, Lu, Jingru, Wang, Cui, Tuffery-Giraud, Sylvie, Bottillo, Irene, Wang, Xinsheng, Shao, Leping
Published in Scientific reports (26.09.2016)
Published in Scientific reports (26.09.2016)
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Familial hypomagnesaemia, Hypercalciuria and Nephrocalcinosis associated with a novel mutation of the highly conserved leucine residue 116 of Claudin 16 in a Chinese patient with a delayed diagnosis: a case report
Lu, Jingru, Zhao, Xiangzhong, Paiardini, Alessandro, Lang, Yanhua, Bottillo, Irene, Shao, Leping
Published in BMC nephrology (13.07.2018)
Published in BMC nephrology (13.07.2018)
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Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome
Shi, Xiaomeng, Wang, Hong, Zhang, Ruixiao, Liu, Zhiying, Guo, Wencong, Wang, Sai, Liu, Xuyan, Lang, Yanhua, Bottillo, Irene, Dong, Bingzi, Shao, Leping
Published in Molecular genetics & genomic medicine (01.04.2023)
Published in Molecular genetics & genomic medicine (01.04.2023)
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Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report
Zhang, Ruixiao, Chen, Zeqing, Lang, Yanhua, Shao, Shihong, Cai, Yan, You, Qingqing, Sun, Yan, Wang, Sai, Shi, Xiaomeng, Liu, Zhiying, Guo, Wencong, Han, Yue, Shao, Leping
Published in Renal failure (01.01.2020)
Published in Renal failure (01.01.2020)
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High-Frequency Variant p.T60M in NaCl Cotransporter and Blood Pressure Variability in Han Chinese
Shao, Leping, Lang, Yanhua, Wang, Yan, Gao, Yanxia, Zhang, Wei, Niu, Haitao, Liu, Shiguo, Chen, Nan
Published in American journal of nephrology (01.01.2012)
Published in American journal of nephrology (01.01.2012)
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Coexistence of normotensive primary aldosteronism in two patients with Gitelman's syndrome and novel thiazide-sensitive Na–Cl cotransporter mutations
Miao, Zhimin, Gao, Yufang, Bindels, René J M, Yu, Wendong, Lang, Yanhua, Chen, Nan, Ren, Hong, Sun, Fang, Li, Yushan, Wang, Xianghua, Shao, Leping
Published in European journal of endocrinology (01.08.2009)
Published in European journal of endocrinology (01.08.2009)
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A Novel SLC12A3 Splicing Mutation Skipping of Two Exons and Preliminary Screening for Alternative Splice Variants in Human Kidney
Shao, Leping, Liu, Liqiu, Miao, Zhimin, Ren, Hong, Wang, Weiming, Lang, Yanhua, Yue, Shaoheng, Chen, Nan
Published in American journal of nephrology (01.01.2008)
Published in American journal of nephrology (01.01.2008)
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Numerical analysis of a nonlinear age-structured HBV model with saturated incidence and spatial diffusion
Li, Wenli, Liu, Xing, Lang, Yanhua
Published in Mathematics and computers in simulation (01.11.2024)
Published in Mathematics and computers in simulation (01.11.2024)
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Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis
Guo, Wencong, Song, Qijing, Zhang, Ruixiao, Xin, Qing, Liu, Zhiying, Lang, Yanhua, Zhao, Xiangzhong, Shao, Leping
Published in Clinical genetics (01.10.2021)
Published in Clinical genetics (01.10.2021)
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Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assay
Zhang, Ruixiao, Chen, Zeqing, Song, Qijing, Wang, Sai, Liu, Zhiying, Zhao, Xiangzhong, Shi, Xiaomeng, Guo, Wencong, Lang, Yanhua, Bottillo, Irene, Shao, Leping
Published in Human mutation (01.09.2021)
Published in Human mutation (01.09.2021)
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Identification of two novel variants of BCS1L gene in a patient with classical GRACILE syndrome
Guo, Wencong, Shao, Yingfei, Lang, Yanhua, Wang, Hong, Lin, Yi, Liu, Xuyan, Zhang, Ruixiao, Shao, Leping
Published in Nephrology (Carlton, Vic.) (01.10.2022)
Published in Nephrology (Carlton, Vic.) (01.10.2022)
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Eight novel KCNJ1 variants and parathyroid hormone overaction or resistance in 5 probands with Bartter syndrome type 2
Zuo, Jianxin, Guo, Wencong, Wang, Shujuan, Lang, Yanhua, Wang, Sai, Shi, Xiaomeng, Zhang, Ruixiao, Zhao, Xiangzhong, Han, Yue, Shao, Leping
Published in Clinica chimica acta (01.12.2020)
Published in Clinica chimica acta (01.12.2020)
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Genotype/Phenotype Analysis in 67 Chinese Patients with Gitelman's Syndrome
Liu, Ting, Wang, Cui, Lu, Jingru, Zhao, Xiangzhong, Lang, Yanhua, Shao, Leping
Published in American journal of nephrology (01.09.2016)
Published in American journal of nephrology (01.09.2016)
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A novel heterozygous variant of the SALL1 gene with atypical Townes‐Brocks syndrome phenotypes in Chinese family
Liu, Xuyan, Wang, Hong, Zhang, Yiyin, Zhang, Ran, Zhang, Ruixiao, Shi, Xiaomeng, Pan, Fengjiao, Qiao, Dan, Xin, Qing, Liu, Zhiying, Zhang, Yan, Li, Changying, Lang, Yanhua, Shao, Leping
Published in Nephrology (Carlton, Vic.) (01.08.2024)
Published in Nephrology (Carlton, Vic.) (01.08.2024)
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Eleven novel SLC12A1 variants and an exonic mutation cause exon skipping in Bartter syndrome type I
Han, Yue, Zhao, Xiangzhong, Wang, Sai, Wang, Cui, Tian, Dongxu, Lang, Yanhua, Bottillo, Irene, Wang, Xinsheng, Shao, Leping
Published in Endocrine (01.06.2019)
Published in Endocrine (01.06.2019)
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