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Greg J. Mellor et al.
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Chiara Po' et al.
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R. J. McKinlay Gardner et al.
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Tyler Buddell et al.
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Amandine Baurand et al.
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Marina Cerrone et al.
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Robert Sepp et al.
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Ivy E. Dick et al.
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Rocio Acuna-Hidalgo et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2015)
Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between timothy syndrome types 1 and 2?
Vinson Diep et al.
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Expanding the Phenotype of Timothy Syndrome Type 2: An Adolescent with Ventricular Fibrillation but Normal Development
Anita Hiippala et al.
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Megumi Fukuyama et al.
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Yuan Tian et al.
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Jane Gillis et al.
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Moshe Cohen-Kutner et al.
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Maaike Hoekstra et al.
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Susan P. Etheridge et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2011)
A rare association of long QT syndrome and syndactyly: Timothy Syndrome (LQT 8)
U. Krause et al.
CLINICAL RESEARCH IN CARDIOLOGY (2011)
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome
Sergiu P. Pasca et al.
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Mouse model of Timothy syndrome recapitulates triad of autistic traits
Patrick L. Bader et al.
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Elena Burashnikov et al.
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E. K. Green et al.
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M. Nyegaard et al.
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Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
Manuel A. R. Ferreira et al.
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Curtis F. Barrett et al.
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Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-Segment elevation, short QT intervals, and sudden cardiac death
Charles Antzelevitch et al.
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Syndactyly and long QT syndrome (Cav1.2 missense mutation G406R) is associated with hypertrophic cardiomyopathy
SM Lo-A-Njoe et al.
HEART RHYTHM (2005)
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations
I Splawski et al.
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Transcript scanning reveals novel and extensive splice variations in human L-type voltage-gated calcium channel, Cav1.2 α1 subunit
ZZ Tang et al.
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I Splawski et al.
CELL (2004)
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W Rottbauer et al.
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C-terminal fragments of the α1C (Cav1.2) subunit associate with and regulate L-type calcium channels containing C-terminal-truncated α1C subunits
TY Gao et al.
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Functional embryonic cardiomyocytes after disruption of the L-type α1C (Cav1.2) calcium channel gene in the mouse
C Seisenberger et al.
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