Associated Papers
Establishment and characterization of ZJUCHi003: an induced pluripotent stem cell line from a patient with Temple-Baraitser/Zimmermann-Laband syndrome carrying KCNH1 c.1070G > A (p.R357Q) variant.
Chen D et al.
Human Cell, 2024
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
Gao X et al.
Human Genetics, 2022
Potassium Channel Gain of Function in Epilepsy: An Unresolved Paradox.
Niday Z et al.
The Neuroscientist : a Review Journal Bringing Neurobiology, Neurology and Psychiatry, 2018
Epilepsy in KCNH1-related syndromes.
Mastrangelo M et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
Bramswig NC et al.
Human Genetics, 2015
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