Results 121 to 125 of about 851 (125)

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype

Basic Research in Cardiology, 2013
Birgit Stallmeyer, Sven Zumhagen, Decher Niels   +2 more
exaly  

A case of Andersen–Tawil syndrome presenting periodic paralysis exacerbated by acetazolamide

Journal of the Neurological Sciences, 2014
Jun-Hui Yuan, Hiroshi Takashima, Reiji Koide   +2 more
exaly  

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen–Tawil syndrome

Canadian Journal of Physiology and Pharmacology, 2015
Norbert László Jost, Miklós Szekeres, István Nagy   +2 more
exaly  

Functional analysis of a double-point mutation in the KCNJ2 gene identified in a family with Andersen-Tawil syndrome

Journal of the Neurological Sciences, 2019
Yasushi Okamura, Shinobu Fukumura, Akira Kawanabe   +2 more
exaly  

Andersen-Tawil Syndrome : A Comprehensive Review

2022
Nikus Kjell, Nikus Kjell
openaire   +1 more source