Lv5
847 积分 2024-12-05 加入
Calibration and evaluation of machine-learning algorithms for missense variant classification under ACMG/ClinGen recommendations
7天前
已关闭
Deletion of first noncoding exon in ANKRD11 leads to KBG syndrome
19天前
已完结
(New) antenatal ultrasound signs of fetal junctional epidermolysis bullosa: A case report and systematic review of literature
30天前
已完结
High-risk genes involved in common septal defects of congenital heart disease
1个月前
已完结
Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant
1个月前
已完结
STX16 exon 5–7 deletion in a patient with pseudohypoparathyroidism type 1B
1个月前
已完结
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
1个月前
已完结
A mutation in the cardiac KV7.1 channel possibly disrupts interaction with Yotiao protein
2个月前
已完结
Beyond 'speech delay': Expanding the phenotype of BRPF1-related disorder
2个月前
已完结
Genotype–phenotype correlations of AR‐CMT2S in a cohort of axonal Charcot–Marie–Tooth patients from Central South China
2个月前
已完结
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