Lv1
10 积分 2025-04-21 加入
Mutation spectrum of the NF1 gene and genotype–phenotype correlations in Turkish patients: Seventeen novel pathogenic variants
6天前
已完结
HTRA1-related cerebral small-vessel disease causes cerebral microbleeds on the brainstem surface
9天前
已完结
Craniosynostosis in molecularly diagnosed Kabuki syndrome: Prevalence and clinical implications
13天前
已完结
The Movement Disorder Spectrum of ATP1A3 ‐Related Disorders: Cross‐Sectional Analysis and Video Archive of 88 Patients
15天前
已完结
Ten novel mutations inVMD2associated with Best macular dystrophy (BMD)
26天前
已完结
Combined exome analysis and exome depth assessment achieve a high diagnostic yield in an epilepsy case series, revealing significant genomic heterogeneity and novel mechanisms
30天前
已完结
New insights into the genetics of 5-oxoprolinase deficiency and further evidence that it is a benign biochemical condition
1个月前
已完结
Mutation spectrum of the fibrillin‐1 (FBN1) gene in Taiwanese patients with Marfan syndrome
1个月前
已完结
Secondary genomic findings in the 2020 China Neonatal Genomes Project participants
2个月前
已完结
Characteristics of the genotype and phenotype in Chinese primary hyperoxaluria type 1 populations
2个月前
已完结
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