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Last Updated: 03/06/2025
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Found 411 publications
Epidemiology of Congenital Hand Anomalies at a Single Center in Mainland China: An Analysis of 1,415 Cases.
Journal: The journal of hand surgery Asian-Pacific volume
Published: January 17, 2025
Radiculomegaly as a key clinical feature in oculo-facio-cardio-dental (OFCD) syndrome: a case report with a novel truncating variant in BCOR gene.
Journal: Cardiology in the young
Published: October 11, 2024
Unraveling the Genetic Basis of Congenital Limb Anomalies in Eight Families.
Journal: Clinical genetics
Published: September 12, 2024
Knock-in swine model reveals new arrhythmia mechanism in Timothy syndrome.
Journal: Nature cardiovascular research
Published: August 28, 2024
A Natural History Study of Timothy Syndrome.
Journal: Orphanet journal of rare diseases
Published: May 15, 2024
Making sense of Timothy syndrome with 3D human neuronal models.
Journal: Neuron
Published: May 14, 2024
Targeting RNA opens therapeutic avenues for Timothy syndrome.
Journal: Nature
Published: April 10, 2024
Generating a human induced pluripotent stem cell line (XACHi018-A) from a Timothy syndrome infant carrying heterozygous CACNA1C c.1216G>A (p.G406R) mutation.
Journal: Stem cell research
Published: February 10, 2024
Transmural APD heterogeneity determines ventricular arrhythmogenesis in LQT8 syndrome: Insights from Bidomain computational modeling.
Journal: PloS one
Published: February 09, 2024
Effect of physical activity on the relationship between adiposity and cardiac autonomic modulation in female breast cancer survivors: a longitudinal study.
Journal: Women & health
Published: January 17, 2024
Last Updated: 03/06/2025