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Takuya Fujimaru

Tokyo Medical and Dental University

13

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36

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A Novel LMX1B Variant Identified in a Patient Presenting with Severe Renal Involvement and Thin Glomerular Basement Membrane.

2021 Nephron
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Deletion of Alox15 improves kidney dysfunction and inhibits fibrosis by increased PGD 2 in the kidney.

2021 Clinical and Experimental Nephrology
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Copy Number Variation: A New Genetic Form of Polycystic Kidney and Liver Disease

2020 Kidney International Reports
- Takuya Fujimaru
- Eisei Sohara
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Phenotypic differences of mutation-negative cases in Gitelman syndrome clinically diagnosed in adulthood.

2020 Human Mutation
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Genotype-Clinical Correlations in Polycystic Kidney Disease with No Apparent Family History

2019 American Journal of Nephrology
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A familial case of pseudohypoaldosteronism type II (PHA2) with a novel mutation (D564N) in the acidic motif in WNK4

2019 Molecular Genetics & Genomic Medicine
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PKD1 mutation may epistatically ameliorate nephronophthisis progression in patients with NPHP1 deletion

2019 Clinical Case Reports
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Kidney enlargement and multiple liver cyst formation implicate mutations in PKD1/2 in adult sporadic polycystic kidney disease

2018 Clinical Genetics
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Everolimus Reduces the Size of Tuberous Sclerosis Complex-Related Huge Renal Angiomyolipomas Exceeding 20 cm in the Longest Diameter

2018 Case Reports in Oncology
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