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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Syndrome and SLC12A1[original query]
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
Mutation spectrum of Chinese patients with Bartter syndrome.
Oncotarget 2017 12 8 (60): 101614-101622.
Han Yue, Lin Yi, Sun Qing, Wang Shujuan, Gao Yanxia, Shao Lepi
A long-term study of the effects of SLC12A1 homozygous mutation (g.62382825G>A, p.Pro372Leu) in Japanese Black cattle.
Animal science journal = Nihon chikusan Gakkaiho 2020 7 91 (1): e13415.
Sakamoto Yoichi, Hasegawa Kiyotoshi, Moriwaki Shunsuke, Hara Yoko, Hamada Yuta, Sasaki Shin
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
Phenotypic and genotypic characteristics of children with Bartter syndrome.
The Turkish journal of pediatrics 2022 10 64 (5): 825-838.
Güven Serçin, Gökçe ?brahim, Alavanda Ceren, Çiçek Neslihan, Demirci Ece Bodur, Sak Mehtap, Pul Serim, Türkkan Özde Nisa, Y?ld?z Nurdan, Ata P?nar, Alpay Hari
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