Lv6
2830 积分 2021-08-06 加入
SCAF4-related syndromic intellectual disability
10天前
已完结
Expanding the mutational spectrum of LZTR1 in schwannomatosis
16天前
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
17天前
已完结
Heterozygous Spink1 c.194+2T>C mutation promotes chronic pancreatitis after acute attack in mice
23天前
已完结
SPINK1 mutations and risk of pancreatic cancer in a Chinese cohort
23天前
已完结
Meta-analysis of the impact of the SPINK1 c.194 + 2T > C variant in chronic pancreatitis
23天前
已完结
Adams–Oliver syndrome review of the literature: Refining the diagnostic phenotype
23天前
已完结
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
24天前
已完结
CMT4J, parkinsonism and a new FIG4 mutation
27天前
已完结
The corpus callosum, the other great forebrain commissures, and the septum pellucidum: anatomy, development, and malformation
1个月前
已完结
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