Lv5
1530 积分 2023-07-23 加入
Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes
2天前
已完结
Phenotype and genotype spectra of a Chinese cohort with nephronophthisis-related ciliopathy
2天前
求助中
SCN1A intronic variants impact on Nav1.1 protein expression and sodium channel function, and associated with epilepsy phenotypic severity
2天前
已完结
In-vitro NLRP3 functional test assists the diagnosis of cryopyrin-associated periodic syndrome (CAPS) patients: A Brazilian cooperation
2天前
已完结
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
3天前
已完结
Further clinical delineation of microcephaly‐capillary malformation syndrome
5天前
已完结
The Coexistence of TRPV6 Variants With Other Pancreatitis‐Associated Genes Affects Pediatric‐Onset Pancreatitis
6天前
已完结
Clinical features of patients with mutations in genes for nanophthalmos
7天前
已关闭
Clinical features of patients with mutations in genes for nanophthalmos
7天前
已完结
Short anagen hair syndrome: association with mono- and biallelic variants in WNT10A and a genetic overlap with male pattern hair loss
11天前
已完结
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