Lv4
434 积分 2024-10-16 加入
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome
9天前
已完结
[Genetic analysis of two Chinese families with maple syrup urine disease]
13天前
已关闭
Mutant superoxide dismutase-1 indistinguishable from wild-type causes ALS
18天前
已关闭
Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa
22天前
已关闭
Refining genotype–phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants
24天前
已关闭
Identifying novel AGRN variants in congenital myasthenic syndrome; Insights from three Iranian families
26天前
已关闭
KCNK4-related channelopathy causing a neurodevelopmental syndrome
27天前
已关闭
Cohen syndrome: Can early‐onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?
1个月前
已完结
Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
1个月前
已完结
Revisiting pachyonychia congenita: a case‐cohort study of 815 patients
1个月前
已关闭
Autoignition prediction capability of the Livengood–Wu correlation applied to fuels of commercial interest
4个月前
已采纳
Predicting contents of carbon and its component fractions in Australian soils from diffuse reflectance mid-infrared spectra
4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
4个月前
已采纳
Construction of engineered Arthrobacter simplex with improved performance for cortisone acetate biotransformation
4个月前
已采纳
Upregulated cyclins may be novel genes for triple-negative breast cancer based on bioinformatic analysis
4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
4个月前
已采纳
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