Associated Papers
Discovery of myosin light chain kinase gene variant in a patient with tetralogy of Fallot suffering aortic dissection: Implications for pathogenesis and the role of family and population screening.
Debiec R et al.
International Journal of Cardiology. Congenital Heart Disease, 2024
Identification of three novel homozygous variants in COL9A3 causing autosomal recessive Stickler syndrome.
Rad A et al.
Orphanet Journal of Rare Diseases, 2022
Sequence variants in muscle tissue-related genes may determine the severity of muscle contractures in cerebral palsy.
Pingel J et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2019
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