Lv31
392 积分 2024-10-16 加入
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1小时前
待确认
[Diagnosis of two cases from one family with Joubert syndrome caused by novel mutations of TCTN1 gene by whole exome sequencing]
1个月前
已完结
Periodic Paralysis in a Child With Thermosensitive Mitochondrial Trifunctional Protein Deficiency
3个月前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
3个月前
已完结
Correlation of ATP7B gene mutations with clinical phenotype and radiological features in Indian Wilson disease patients
4个月前
已完结
RECQL4-related Rothmund-Thomson syndrome: A case series and literature review
4个月前
已关闭
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
5个月前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
5个月前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
5个月前
已关闭
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
5个月前
已完结
Autoignition prediction capability of the Livengood–Wu correlation applied to fuels of commercial interest
10个月前
已采纳
Predicting contents of carbon and its component fractions in Australian soils from diffuse reflectance mid-infrared spectra
10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
11个月前
已采纳
Construction of engineered Arthrobacter simplex with improved performance for cortisone acetate biotransformation
11个月前
已采纳
Upregulated cyclins may be novel genes for triple-negative breast cancer based on bioinformatic analysis
11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
11个月前
已采纳
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