Associated Papers
Genetic Analysis of Hereditary Coagulation Factor V Deficiency in Two Chinese Families Caused by Compound Heterozygous Mutations.
Chen Y et al.
Hamostaseologie, 2023
Screening for thrombophilia in patients with thromboangitis obliterans using whole-exome sequencing.
Chen F et al.
Thrombosis Research, 2023
Congenital factor V deficiency in Taiwan: identification of a novel variant p.Tyr1813 ∗ and two variants specific to East Asians.
Lin HY et al.
Blood Coagulation & Fibrinolysis : an International Journal in Haemostasis and Thrombosis, 2023
Analysis of 363 Genetic Variants in F5 via an Interactive Web Database Reveals New Insights into FV Deficiency and FV Leiden.
Efthymiou C et al.
Th Open : Companion Journal to Thrombosis and Haemostasis, 2023
36751301 (PubMed )
Supplement: 10-1055-a-1987-5978-s22080039.pdf
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Added Value of Clinical Sequencing: WGS-Based Profiling of Pharmacogenes.
Caspar SM et al.
International Journal of Molecular Sciences, 2020
32225115 (PubMed )
Supplement: ijms-21-02308-s001.zip › Caspar_et_al_Supplementary_Table_S1.xlsx › gnomAD_Exomes_LOF
Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.
Chen X et al.
Bmc Medical Genetics, 2019
31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil
[Hereditary coagulation factor VII deficiency in a case].
Chen SY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
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