Lv11
70 积分 2024-04-25 加入
Meier–Gorlin syndrome due to a recurrent DONSON variant in a Turkish family: first report of thumb aplasia and long-term growth data
2小时前
待确认
New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy
21天前
已完结
The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
22天前
已完结
The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
1个月前
已完结
Multidisciplinary management of congenital ichthyosis with confetti: a case report of the clinical course and genetic diagnosis in a patient with a KRT10 mutation
1个月前
已完结
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
1个月前
已完结
Mosaic Trisomy 9p in a Patient with Mild Dysmorphic Features and Normal Intelligence
4个月前
已关闭
Chromosome 2q12.3-q13 copy number variants in patients with neurodevelopmental disorders: genotype-phenotype correlation and new hotspots
5个月前
已完结
Expression of the two iduronate-2-sulfatase cDNAs
7个月前
已关闭
GNAS/PKA signaling promotes aberrant osteochondral differentiation of Gli1+ tendon sheath progenitors
8个月前
已完结
Task-specific models vs. large vision-language models in medical visual question answering: A survey
1个月前
已采纳
Unlocking the potential: Evaluating the impact of online gamified and non-gamified assessment tools on academic performance, motivation, engagement and satisfaction in undergraduate medical education
9个月前
已采纳