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30 积分 2025-08-23 加入
Rothmund-Thomson Syndrome Type 2 in an African American/Puerto Rican Child Demonstrates Diagnostic Challenges in Diverse Population
19小时前
待确认
[Analysis of TGFBI gene mutation in a Chinese pedigree affected with lattice corneal dystrophy]
8天前
已完结
ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel
18天前
已完结
[Phenotype-genotype analysis and detection of gene variant in six families with osteogenesis imperfecta]
25天前
已完结
A cryptic duplication 22q13.31 to qter leads to a distinct phenotype with mental retardation, microcephaly and mild facial dysmorphism
27天前
已关闭
Three children with different de novo BCL11A variants and diverse developmental phenotypes, but shared global motor discoordination and apraxic speech: Evidence for a functional gene network influencing the developing cerebellum and motor and auditory cortices
28天前
已完结
[Clinical and mutational features of maternal 3-methylcrotonyl coenzyme deficiency]
1个月前
已完结
N965S is a common ABCA4 variant in Stargardt-related retinopathies in the Danish population
1个月前
已完结
Clinical and Genetic Findings in a Chinese Cohort of Patients with Digeorge Syndrome-Related Hypoparathyroidism
1个月前
已完结
X-linked Alport Syndrome
1个月前
已完结
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