Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 6 (of 6 Records) |
Query Trace: Bartter Syndrome Type 4[original query] |
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Common variants in genes underlying monogenic hypertension and hypotension and blood pressure in the general population. Hypertension 2008 Jun 51 (6): 1658-64. Tobin Martin D, Tomaszewski Maciej, Braund Peter S, Hajat Cother, Raleigh Stuart M, Palmer Thomas M, Caulfield Mark, Burton Paul R, Samani Nilesh |
Association of Mutations in SLC12A1 Encoding the NKCC2 Cotransporter With Neonatal Primary Hyperparathyroidism. The Journal of clinical endocrinology and metabolism 2016 Mar jc20161211. Li Dong, Tian Lifeng, Hou Cuiping, Kim Cecilia E, Hakonarson Hakon, Levine Michael |
Digenic mutations involving both the BSND and GJB2 genes detected in Bartter syndrome type IV. International journal of pediatric otorhinolaryngology 2016 12 92 17-20. Wang Hong-Han, Feng Yong, Li Hai-Bo, Wu Hong, Mei Ling-Yun, Wang Xing-Wei, Jiang Lu, He Chu-Fe |
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 |
Rare diseases caused by abnormal calcium sensing and signalling. Endocrine 2021 2 71 (3): 611-617. T?ke Judit, Czirják Gábor, Enyedi Péter, Tóth Mikl |
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 |
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- Page last updated:May 13, 2024
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