Lv5
1552 积分 2024-01-07 加入
Comprehensive genetic analysis uncovers the mutational spectrum of MFRP and its genotype-phenotype correlation in a large cohort of Chinese microphthalmia patients
15天前
已完结
Genetic and clinical profile of 15 Chinese families with GDAP1‐related Charcot–Marie–Tooth disease and identification of H256R as a frequent mutation
1个月前
已完结
Role of Molecular Genetic Factors in Formation of the Clinical Type of Neurofibromatosis Type 2
3个月前
已关闭
Clinical and genetic features of retinoschisis in 120 families withRS1mutations
4个月前
已关闭
Deamidation enables pathogenic SMAD6 variants to activate the BMP signaling pathway
4个月前
已完结
Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant
5个月前
已完结
Lack of Association between Increased Carotid Intima-Media Thickening and Decreased HDL-Cholesterol in a Family with a Novel ABCA1 Variant, G2265T
5个月前
已关闭
Clinical features of patients with mutations in genes for nanophthalmos
5个月前
已关闭
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)
6个月前
已完结
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
7个月前
已完结
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients
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