Lv62
1762 积分 2024-06-13 加入
Two familial cases of infantile epileptic spasms syndrome associated with UDP-glucose-6-dehydrogenase deficiency
4天前
已完结
Exon Skipping Caused by Noncanonical Splicing Mutation in PRDX3-Related Spinocerebellar Ataxia
5天前
已完结
5 例糖原贮积症IXc 型患儿临床和PHKG2 基因突变分析
6天前
已完结
Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature
6天前
已完结
Mutation screening in autosomal dominant congenital cataract families from North India
21天前
已完结
Expansion of the Phenotype of You-Hoover-Fong Syndrome and Possible Increased Risk of Cancer
22天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
28天前
已完结
Molecular and Clinical Features of Congenital Hypothyroidism Due to Multiple DUOX2 Variants
28天前
已完结
Correlation of DUOX2 residual enzymatic activity with phenotype in congenital hypothyroidism caused by biallelic DUOX2 defects
28天前
已完结
Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases
28天前
已完结
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