Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and CLCNKB[original query] |
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| Clinical and genetic analyses of Chinese patients with Gitelman syndrome. Genetics and molecular research : GMR 2016 15 (2): . Miao M, Zhao C Q, Wang X L, Shan Z |
| Six novel rare non-synonymous mutations for migraine without aura identified by exome sequencing. Journal of neurogenetics 2015 Dec 29 (4): 188-94. Jiang Yue, Wu Rong, Chen Chen, You Zhi-Fei, Luo Xingguang, Wang Xiao-Pi |
| 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 |
| 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, |
| 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 |
| Long-read sequencing identifies a common transposition haplotype predisposing for CLCNKB deletions. Genome medicine 2023 8 15 (1): 62. Nikolai Tschernoster, Florian Erger, Stefan Kohl, Björn Reusch, Andrea Wenzel, Stephen Walsh, Holger Thiele, Christian Becker, Marek Franitza, Malte P Bartram, Martin Kömhoff, Lena Schumacher, Christian Kukat, Tatiana Borodina, Claudia Quedenau, Peter Nürnberg, Markus M Rinschen, Jan H Driller, Bjørn P Pedersen, Karl P Schlingmann, Bruno Hüttel, Detlef Bockenhauer, Bodo Beck, Janine Altmüll |
| Bartter Syndrome-Related Variants Distribution: Brazilian Data and Its Comparison with Worldwide Cohorts. Nephron 2023 3 1-18. Vaisbich Maria Helena, Messa Ana Carola Hebbia Lobo, Rangel-Santos Andréia Cristiane, Ferreira Juliana Caires de Oliveira Achili, Nunes Fernanda Andrade Macaferri da Fonseca, Watanabe Andre |
| Genetic Etiology Investigation in Treatment-Resistant Nocturnal Enuresis Children: A descriptive study. Urology journal 2024 12 . Sevim Yener, Metin Es |
- Page last reviewed:Feb 1, 2024
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