Lv1
10 积分 2023-06-28 加入
[Diagnosis of two neonates with galactosemia by using next generation sequencing]
3天前
已完结
[Analysis of newborn screening for galactosemia and genotype-phenotype of confirmed galatosemia cases]
3天前
已完结
Increased genetic risk or protection for canine autoimmune lymphocytic thyroiditis in Giant Schnauzers depends on DLA class II genotype
6天前
已完结
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
11天前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
18天前
已完结
Abstracts of the 33rd Annual Conference of the Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS) (Association for pediatric metabolic disorders)
24天前
已完结
Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients
24天前
已完结
Chorea-acanthocytosis presenting as dystonia
1个月前
已关闭
Antisense oligonucleotides rescue an intronic splicing variant in the ABCB11 gene that causes progressive familial intrahepatic cholestasis type 2
1个月前
已完结
IPSC reprogramming of two patients with spondyloepimetaphyseal dysplasia (SEMD, biglycan type)
1个月前
已关闭
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