Associated Papers
Clinical Insights From a Case of Sifrim-Hitz-Weiss Syndrome With a CHD4 Variant: Expanding the Phenotypic Spectrum and Its Response to Growth Hormone Therapy.
Zhang J et al.
American Journal of Medical Genetics. Part A, 2026
In silico Analysis of CHD4 Mutations Reveals Domain-Specific Impacts on Cardiovascular Disorders Among Patients With Rare Diseases.
Novillo A et al.
Human Mutation, 2026
CHD4 variants are associated with childhood idiopathic epilepsy with sinus arrhythmia.
Liu XR et al.
Cns Neuroscience & Therapeutics, 2021
Molecular Analysis of Mixed Endometrial Carcinomas Shows Clonality in Most Cases.
Köbel M et al.
The American Journal of Surgical Pathology, 2016
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