Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: Alkalosis and CLCNKB[original query] |
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Mutations in SLC12A3 and CLCNKB and Their Correlation with Clinical Phenotype in Patients with Gitelman and Gitelman-like Syndrome. Journal of Korean medical science 2016 Jan 31 (1): 47-54. Lee Jae Wook, Lee Jeonghwan, Heo Nam Ju, Cheong Hae Il, Han Jin S |
Thirteen novel CLCNKB variants and genotype/phenotype association study in 42 Chinese patients with Bartter syndrome type 3. Endocrine 2019 Dec . Han Yue, Cheng Hai, Shao Shihong, Lang Yanhua, Zhao Xiangzhong, Lin Yi, Wang Sai, Shi Xiaomeng, Liu Zhiying, Shao Lepi |
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA. Journal of the American Society of Nephrology : JASN 2021 10 33 (2): 305-325. Viering Daan, Schlingmann Karl P, Hureaux Marguerite, Nijenhuis Tom, Mallett Andrew, Chan Melanie M Y, van Beek André, van Eerde Albertien M, Coulibaly Jean-Marie, Vallet Marion, Decramer Stéphane, Pelletier Solenne, Klaus Günter, Kömhoff Martin, Beetz Rolf, Patel Chirag, Shenoy Mohan, Steenbergen Eric J, Anderson Glenn, Bongers Ernie M H F, Bergmann Carsten, Panneman Daan, Rodenburg Richard J, Kleta Robert, Houillier Pascal, Konrad Martin, Vargas-Poussou Rosa, Knoers Nine V A M, Bockenhauer Detlef, de Baaij Jeroen H F, |
Genetic diagnosis of Bartter syndrome in Iranian patients and detection of a novel homozygous CLCNKB mutation. Clinical case reports 2022 12 10 (12): e6698. Nojehdeh Somayeh Takrim, Mojbafan Marzieh, Hooman Nakysa, Hoseini Rozita, Otukesh Has |
Clinical Course and Prognosis of Tubulopathies Characterized by Metabolic Alkalosis in Children. Turkish archives of pediatrics 2022 10 57 (6): 644-650. Huseynli Bahruz, Atm?? Bahriye, Cevizli Derya, Bi?gin At?l, Karabay Bayaz?t Ays |
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