Lv21
200 积分 2025-04-19 加入
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
6天前
已完结
[Genetic analysis of a family with Dentinogenesis imperfecta type Ⅰ caused by a novel mutation in the COL1A2 gene]
6天前
已关闭
Association of Antenatal Evaluations with Postmortem and Genetic Findings in the Series of Fetal Osteogenesis Imperfecta
7天前
已完结
Can tandem alternative splicing and evasion of premature termination codon surveillance contribute to attenuated Peutz–Jeghers syndrome?
12天前
已完结
Wnt/beta-catenin activated non pilomatrical carcinoma of the skin: a case series
14天前
已关闭
Sporadic and Familial Adenomatous Polyposis-associated Foveolar-type Adenoma of the Stomach
14天前
已完结
Supraventricular tachyarrhythmia and sinus node dysfunction as a first manifestation of short QT syndrome in a pediatric patient. Case Report
18天前
已完结
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
20天前
已完结
Heterozygosity for loss-of-function variants in LZTR1 is associated with isolated multiple café-au-lait macules
21天前
已完结
SCID and Other Inborn Errors of Immunity with Low TRECs — the Brazilian Experience
1个月前
已完结
皖公网安备34019202002308
