Lv32
354 积分 2020-11-09 加入
NLRC4 gain-of-function variant is identified in a patient with systemic lupus erythematosus
10天前
已完结
Genetic analysis of two heterozygous SMPD1 variants in a pediatric Niemann-Pick disease patient
11天前
已关闭
21-Hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype–phenotype correlation and identification of nine novel mutations
18天前
已关闭
Exon-Scanning Mutation Analysisof the ATM Gene in Patients withAtaxia-T elangiectasia
24天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
28天前
已关闭
Complete nucleotide sequence of the gene for human C1 inhibitor with an unusually high density of Alu elements
28天前
已完结
Expanded repertoire of RASGRP2 variants responsible for platelet dysfunction and severe bleeding
29天前
已完结
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
1个月前
已完结
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease
1个月前
已关闭
皖公网安备34019202002308
