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Ruixiao Zhang

Qingdao University

16

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17

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Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis

2021 Clinical Genetics
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A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome with diabetes and the choices of the appropriate hypoglycemic drugs: a case report

2021 BMC Medical Genomics
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Identification of eight exonic variants in the SLC4A1, ATP6V1B1 and ATP6V0A4 gene that alter RNA splicing by minigene assay

2021
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Identification of eight exonic variants in the SLC4A1, ATP6V1B1 and ATP6V0A4 gene that alter RNA splicing by minigene assay

2021
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Sudden onset of nephrotic syndrome in an asymptomatic Fabry patient: a case report.

2020 Renal Failure
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Eight Novel KCNJ1 Variants and Parathyroid Hormone Overaction or Resistance in 5 Probands with Bartter Syndrome Type 2

2020 Clinica Chimica Acta
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Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

2020 Frontiers in Genetics
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Mutation analysis of 5 children with primary distal renal tubular acidosis

2018
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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

2018 BMC Medical Genetics
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Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

2018 European Journal of Human Genetics
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