Lv3
215 积分 2025-05-20 加入
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
5天前
已完结
PINK1-PD in Austronesian Population: Novel Mutation and Clinical Advantages of 7-Tesla MRI Versus DATSCAN-SPECT (P11-3.016)
1个月前
已关闭
Alpha-mannosidosis in a family: natural history with an uncommon retinal dystrophy
1个月前
已完结
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population
1个月前
已完结
Pediatric glioblastoma in the setting of constitutional mismatch‐repair deficiency treated with upfront lomustine and nivolumab
1个月前
已完结
[Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China]
1个月前
已完结
Structure of the MutLα C-terminal domain reveals how Mlh1 contributes to Pms1 endonuclease site
1个月前
已完结
Genotyping as Part of Routine Clinical Care—The Outcomes for a Large Paediatric Vascular Anomaly Cohort
1个月前
已完结
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