Lv3
310 积分 2025-04-15 加入
[Echocardiographic manifestation and analysis of TGFBR1 gene variant in a Chinese patient with Loeys-Dietz syndrome]
5个月前
已完结
Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations
6个月前
已关闭
Phosphorylation and subcellular localization of human phospholipase A1, DDHD1/PA-PLA1
8个月前
已关闭
[Genetic analysis and prenatal diagnosis for ten families affected with tuberous sclerosis complex]
8个月前
已完结
Identification of a CFTR frameshift mutation (1013 delAA) in trans to delta F508 in a pancreatic sufficient cystic fibrosis patient
8个月前
已关闭
Nasal polyposis and cystic fibrosis(CF): review of the literature
8个月前
已关闭
Mid-trimester hyperechogenic bowel in a fetus of Turkish origin carrying a rarely seen mutation of cystic fibrosis
8个月前
已关闭
Exome Analysis of a New Disease-causing Mutation in a Preterm Neonate with NP-C Disease
8个月前
已关闭
Niemann-Pick Type C 1 (NPC1) and NPC2 Gene Variability in Demented Patients with Evidence of Brain Amyloid Deposition
8个月前
已关闭
Recurrent nonsense p.Trp3416* variant in the DMD gene identified in healthy Lebanese individuals: Implications for variant classification and genotype-phenotype correlations
8个月前
已关闭
皖公网安备34019202002308
