Lv6
2810 积分 2021-08-06 加入
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders
2小时前
已完结
Patterns of X-linked inheritance: A new approach for the genome era
13天前
已完结
SCAF4-related syndromic intellectual disability
1个月前
已完结
Expanding the mutational spectrum of LZTR1 in schwannomatosis
2个月前
已完结
Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review
2个月前
已完结
Heterozygous Spink1 c.194+2T>C mutation promotes chronic pancreatitis after acute attack in mice
2个月前
已完结
SPINK1 mutations and risk of pancreatic cancer in a Chinese cohort
2个月前
已完结
Meta-analysis of the impact of the SPINK1 c.194 + 2T > C variant in chronic pancreatitis
2个月前
已完结
Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype
2个月前
已完结
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
2个月前
已完结