Lv3
254 积分 2024-10-16 加入
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
3天前
已完结
Mutation screening in autosomal dominant congenital cataract families from North India
12天前
已完结
A novel hepatocyte nuclear factor-1β (MODY 5) gene mutation in a Romanian boy with pancreatic calcifications, renal and hepatic dysfunction
16天前
已关闭
Hepatocyte Nuclear Factor 1β–Associated Kidney Disease
16天前
已关闭
SOX5: Lamb–Shaffer syndrome—A case series further expanding the phenotypic spectrum
19天前
已完结
Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting
22天前
已完结
Pseudo-Dystonia and Marked Intrafamilial Variability in CADM3-Related Disease
24天前
已完结
A novel mutation of the androgen receptor gene causes androgen insensitivity syndrome: a case report and literature review
1个月前
已完结
Genomic Landscape of Sporadic Retinitis Pigmentosa
1个月前
已关闭
Delineating the epilepsy phenotype of NGLY1 deficiency
1个月前
已完结
Autoignition prediction capability of the Livengood–Wu correlation applied to fuels of commercial interest
2个月前
已采纳
Predicting contents of carbon and its component fractions in Australian soils from diffuse reflectance mid-infrared spectra
2个月前
已采纳
Efficacy and safety of dapagliflozin monotherapy in Japanese patients with type 2 diabetes inadequately controlled by diet and exercise
3个月前
已采纳
Construction of engineered Arthrobacter simplex with improved performance for cortisone acetate biotransformation
3个月前
已采纳
Upregulated cyclins may be novel genes for triple-negative breast cancer based on bioinformatic analysis
3个月前
已采纳
First-line bevacizumab plus paclitaxel in Japanese patients with HER2-negative metastatic breast cancer: subgroup results from the randomized Phase III MERiDiAN trial
3个月前
已采纳
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