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100 积分 2024-01-19 加入
Paediatric intestinal cancer and polyposis due to bi-allelic PMS2 mutations: Case series, review and follow-up guidelines
19天前
已完结
Monozygotic twins with identical premature timing of acne onset: A Case report
3个月前
已完结
Six new cases of CRB2‐related syndrome and a review of clinical findings in 28 reported patients
4个月前
已完结
Homozygous mutations in CCDC34 cause male infertility with oligoasthenoteratozoospermia in humans and mice
8个月前
已完结
Hypophosphatasia: validation and expansion of the clinical nosology for children from 25 years experience with 173 pediatric patients
9个月前
已完结
Role of CACNA1C in Brugada syndrome: Prevalence and phenotype of probands referred for genetic testing
9个月前
已完结
Novel 14q11.2 microduplication including theCHD8andSUPT16Hgenes associated with developmental delay
10个月前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
11个月前
已完结
Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy
1年前
已关闭
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