Lv5
1512 积分 2024-01-07 加入
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)
1个月前
已完结
Functional studies of twelve mutant V2 vasopressin receptors related to nephrogenic diabetes insipidus
1个月前
已完结
Different impact of two mutations of a novel compound heterozygous protein C deficiency with late onset thrombosis
1个月前
已完结
[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita]
2个月前
已完结
Germline predispositions to myeloid malignancies: Across the lifespan
3个月前
已完结
Expression of mutant JAGGED1 alleles in patients with Alagille syndrome
4个月前
已完结
Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation
4个月前
已完结
Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism
4个月前
已完结
Novel TBX22 mutations in Chinese nonsyndromic cleft lip/palate families
5个月前
已完结
Clinical and genetic spectrum of children with congenital diarrhea and enteropathy in China
5个月前
已完结
Novel FBN1 mutations associated with predominant ectopia lentis and marfanoid habitus in Chinese patients
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