Lv1
26 积分 2023-09-15 加入
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
14小时前
待确认
[Analysis of mutations and haplotypes of polymorphic markers in patients with Wilson-Konovalov disease from Bashkir]
17小时前
求助中
Identification of mutations in 90 of 121 consecutive symptomatic French patients with a type I protein C deficiency. The French INSERM Network on Molecular Abnormalities Responsible for Protein C and Protein S deficiencies
2天前
已完结
A novel homozygous LRRC6 mutation causes male infertility with asthenozoospermia and primary ciliary dyskinesia in humans
5天前
已完结
Musculoskeletal pain and muscular weakness as the main symptoms of adult hypophosphatasia in a Spanish cohort: clinical characterization and identification of a new ALPL gene variant
5天前
已完结
Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
6天前
已完结
Comprehensive genetic characterization of hereditary breast/ovarian cancer families from Slovakia
6天前
已完结
The spectrum of FBN1, TGFβR1, TGFβR2 and ACTA2 variants in 594 individuals with suspected Marfan Syndrome, Loeys–Dietz Syndrome or Thoracic Aortic Aneurysms and Dissections (TAAD)
8天前
已完结
[Potential role of CRELD1 gene in the pathogenesis of atrioventricular septal defect]
9天前
已完结
Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis
14天前
已关闭
pH Sensor Based on Tilted Fiber Bragg Grating Surface Plasmon Resonance with Polyaniline Reaction Deposition Film Layer
1年前
已采纳
A Hybrid Photocatalytic System Splits Atmospheric Water to Produce Hydrogen
1年前
已采纳
10.1007/s11011-021-00753-0
1年前
已采纳
Genome-Wide Mapping of Oxidative DNA Damage via Engineering of 8-Oxoguanine DNA Glycosylase
1年前
已采纳
Self-motion perception is sensitized in vestibular migraine: pathophysiologic and clinical implications
1年前
已采纳
Energy‐Saving Hydrogen Production by Seawater Electrolysis Coupling Sulfion Degradation
1年前
已采纳
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