HuGE Literature Finder
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Genetic testing enables a precision medicine approach for nephrolithiasis and nephrocalcinosis in pediatrics: a single-center cohort. Molecular genetics and genomics : MGG 2022 May . Huang Lin, Qi Chang, Zhu Gaohong, Ding Juanjuan, Yuan Li, Sun Jie, He Xuelian, Wang Xiaow |
Association of autosomal-recessive-type distal renal tubular acidosis and Glanzmann thrombasthenia as a consequence of runs of homozygosity. Clinical case reports 2022 7 10 (7): e6070. Aso Keiko, Soutome Takehiko, Satoh Mari, Aoki Takako, Ogura Hiromi, Yamamoto Toshiyuki, Kanno Hitoshi, Takahashi Hiroyu |
Systematic assessment of monogenic etiology in adult-onset kidney stone formers undergoing urological intervention-evidence for genetic pretest probability. American journal of medical genetics. Part C, Seminars in medical genetics 2022 8 190 (3): 279-288. Schönauer Ria, Scherer Lotte, Nemitz-Kliemchen Melanie, Hagemann Tobias, Hantmann Elena, Seidel Anna, Müller Luise, Kehr Stephanie, Voigt Cornelia, Stolzenburg Jens-Uwe, Halbritter J |
Genotypic and phenotypic analysis in 51 Chinese patients with primary distal renal tubular acidosis. Clinical genetics 2021 6 100 (4): 440-446. Guo Wencong, Song Qijing, Zhang Ruixiao, Xin Qing, Liu Zhiying, Lang Yanhua, Zhao Xiangzhong, Shao Lepi |
Evaluation of phenotypic and genotypic features of children with distal kidney tubular acidosis. Pediatric nephrology (Berlin, Germany) 2020 7 35 (12): 2297-2306. Atmis Bahriye, Cevizli Derya, Melek Engin, Bisgin Atil, Unal Ilker, Anarat Ali, Bayazit Aysun |
Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. Renal failure 2018 9 40 (1): 520-526. Liu Jiaojiao, Shen Qian, Li Guomin, Zhai Yihui, Fang Xiaoyan, Xu Ho |
Distal renal tubular acidosis. Clinical manifestations in patients with different underlying gene mutations. Pediatric nephrology (Berlin, Germany) 2018 5 33 (9): 1523-1529. Alonso-Varela Marta, Gil-Peña Helena, Coto Eliecer, Gómez Juan, Rodríguez Julián, Rodríguez-Rubio Enrique, Santos Fernando, |
Genotype-Phenotype Analysis in Pediatric Patients with Distal Renal Tubular Acidosis. Kidney & blood pressure research 2018 4 43 (2): 513-521. Park Eujin, Cho Myung Hyun, Hyun Hye Sun, Shin Jae Il, Lee Joo Hoon, Park Young Seo, Choi Hyun Jin, Kang Hee Gyung, Cheong Hae |
Molecular Diagnosis of Solute Carrier Family 4 Member 1 (SLC4A1) Mutation-Related Autosomal Recessive Distal Renal Tubular Acidosis. Laboratory medicine 2018 8 50 (1): 78-86. Deejai Nipaporn, Wisanuyotin Suwannee, Nettuwakul Choochai, Khositseth Sookkasem, Sawasdee Nunghathai, Saetai Kiattichai, Yenchitsomanus Pa-Thai, Rungroj Nanyaw |
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