Lv4
794 积分 2024-05-31 加入
A novel deep intronic variant in LAMA2 identified by RNA sequencing
4天前
已完结
[Screening of genetic mutations in a Chinese pedigree affected with hypokalemic periodic paralysis]
25天前
已完结
[Gene screening and phenotype analysis in a pedigree with familial hypertrophic cardiomyopathy from Yunnan Province]
1个月前
已完结
Clinical and hematological features of codon 17, A-T mutation of beta-thalassemia in Thai patients
1个月前
已完结
[The clinical analysis of plakophilin-2 gene mutation in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia]
2个月前
已完结
X-linked severe combined immunodeficiency with gamma delta T cells
3个月前
已关闭
Feasibility of whole‐exome sequencing in fine‐needle aspiration specimens of papillary thyroid microcarcinoma for the identification of novel gene mutations
4个月前
已完结
Effect of familial clustering in the genetic screening of 235 French ALS families
6个月前
已关闭
[Assembly and secretion of mutant fibrinogens with variant gamma-chain C terminal region (gamma313-gamma345)]
6个月前
已关闭
Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region
8个月前
已关闭
皖公网安备34019202002308
