Associated Papers
SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.
Cao K et al.
Hereditary Cancer in Clinical Practice, 2023
Human SMAD4 Genomic Variants Identified in Individuals with Heritable and Early-Onset Thoracic Aortic Disease.
Bhave SA et al.
Cardiogenetics, 2021
SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.
Duan XY et al.
European Journal of Human Genetics : Ejhg, 2019
Expanding the clinical and molecular findings in RASA1 capillary malformation-arteriovenous malformation.
Wooderchak-Donahue WL et al.
European Journal of Human Genetics : Ejhg, 2018
[Mutation analysis of the CHD7 gene in patients with congenital heart disease].
Qi Q et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2008
[Study on mutation of presenilin-1 gene in familial Alzheimer's disease].
Liu XY et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2004
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