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50 积分 2025-09-25 加入
Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis
1个月前
已完结
Genetics of Postlingual Sensorineural Hearing Loss
1个月前
已完结
Analysis of pathogenicity and genotype-phenotype correlation of the c.158G>A variant of phenylalanine hydroxylase gene
1个月前
已完结
Novel RYR1 missense mutations in six Chinese patients with central core disease
1个月前
已完结
Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis
1个月前
已完结
Pseudocysts of the auricle in a young adult with facial and ear atopic dermatitis
2个月前
已完结
遗传性聋的基因诊断与遗传咨询
4个月前
已完结
Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports
4个月前
已完结
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