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[Identification of two novel Parkin gene mutations in a patient affected with Juvenile Parkinson's syndrome]
3天前
已完结
Biological concepts in human sodium channel epilepsies and their relevance in clinical practice
4天前
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DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
4天前
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DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
4天前
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The longest reported sibling survivors of a severe form of congenital myasthenic syndrome with the ALG14 pathogenic variant
7天前
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DNA sequence analysis in 598 individuals with a clinical diagnosis of osteogenesis imperfecta: diagnostic yield and mutation spectrum
8天前
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Genetic landscape of congenital disorders in patients from Southeast Asia: results from sequencing using a gene panel for Mendelian phenotypes
15天前
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Novel mutations of the SLC12A3 gene in patients with Gitelman syndrome
20天前
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LOVD v.2.0: the next generation in gene variant databases
28天前
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Genetic and Clinical Findings in a Large Cohort of Chinese Patients with Suspected Retinitis Pigmentosa
1个月前
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