Lv6
2810 积分 2023-08-28 加入
Description of novel variants in consanguineous Pakistani families affected with intellectual disability
2天前
已完结
Large rearrangements detected by MLPA, point mutations, and survey of the frequency of mutations within the SLC3A1 and SLC7A9 genes in a cohort of 172 cystinuric Italian patients
9天前
已关闭
Unequal Impact of COL1A1 and COL1A2 Variants on Dentinogenesis Imperfecta
9天前
已完结
Targeted High-Throughput Sequencing Analysis Results of Osteogenesis Imperfecta Patients from Different Regions of Turkey
9天前
已完结
XXXY Klinefelter's syndrome
17天前
已完结
NF1 gene analysis based on DHPLC
30天前
已完结
Clinical and genetic characteristics of children with cystic fibrosis in Henan China: A single‐center retrospective analysis
1个月前
已完结
Bi-allelic human TEKT3 mutations cause male infertility with oligoasthenoteratozoospermia owing to acrosomal hypoplasia and reduced progressive motility
1个月前
已完结
Familial 4.8 MB deletion on 18q23 associated with growth hormone insufficiency and phenotypic variability
1个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
1个月前
已完结
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