Lv3
316 积分 2024-11-02 加入
DVPred: a disease-specific prediction tool for variant pathogenicity classification for hearing loss
3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
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
10天前
已完结
Germline findings in patients with advanced malignancies screened with paired blood–tumour testing for personalised treatment approaches
10天前
已完结
Etiologic Diagnosis of Genetic Hearing Loss in an Ethnically Diverse Deafness Cohort
15天前
已关闭
Clinical Course, Genetic Etiology, and Visual Outcome in Cone and Cone–Rod Dystrophy
15天前
已关闭
Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome
23天前
已完结
Germline and Somatic Genetic Characterization of Shwachman-Diamond Syndrome
23天前
已关闭
Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations
23天前
已完结
FDXR-associated disease in a Chinese cohort: Unraveling expanded ocular phenotypes and genetic spectrum
30天前
已完结
Estimating postmortem interval using RNA degradation and morphological changes in tooth pulp
1个月前
已采纳
Stability of Supported Liquid Membranes: State of the Art
1个月前
已采纳
Eph Receptor Tyrosine Kinases in Angiogenesis: From Development to Disease
1个月前
已采纳
Cognition through the lifespan: mechanisms of change
1个月前
已采纳
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