Lv1
76 积分 2023-08-02 加入
Biallelic variants in GLE1 with survival beyond neonatal period
2天前
已完结
Neonatal Dubin-Johnson syndrome: biochemical parameters, characteristics, and genetic variants study
7天前
已完结
Identification of deletions and duplications of the DMD gene in affected males and carrier females by multiple ligation probe amplification (MLPA)
10天前
已完结
An investigation on genetic mutations affecting embryo, oocyte, and sperm quality: An IVF failure perspective
1个月前
已完结
TUBB8 variants in infertile Japanese women, including a novel homozygous nonsense variant causing zygote multinucleation
1个月前
已完结
Inherited CARD9 deficiency in a patient with both subcutaneous mucormycosis and hepatic candidiasis
3个月前
已完结
遗传病二代测序临床检测全流程规范化共识探讨(4)——检测报告解读和遗传咨询
4个月前
已完结
Compound heterozygous variants of the COG6 gene in a Chinese patient with deficiency of subunit 6 of the conserved oligomeric Golgi complex (COG6-CDG)
9个月前
已关闭
甲状腺分泌障碍5型合并家族性神经纤维瘤病胎儿家系的遗传学分析1例
10个月前
已完结
A de novo 2.1‐Mb deletion of 13q12.11 in a child with developmental delay and minor dysmorphic features
11个月前
已完结
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