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小鱼干
Lv1
30 积分
2023-01-10 加入
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Postmortem genetic analysis of sudden unexpected death in infancy: neonatal genetic screening may enable the prevention of sudden infant death
1小时前
待确认
Novel and Recurring Disease-Causing NF1 Variants in Two Chinese Families with Neurofibromatosis Type 1
25天前
已完结
Molecular genetics in diagnosis of Coats disease: combination of oligogenic variants associated with different forms of hereditary retinal dystrophy
1个月前
已完结
Next-Generation Sequencing to Diagnose Suspected Genetic Disorders
1个月前
已完结
Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: single-gene, gene panel, or exome/genome sequencing
1个月前
已完结
Sources of Unease About the Use of Genome Sequencing for Diagnosing Rare Diseases in Children
1个月前
已完结
Frequency of familial Mediterranean fever (MEFV) gene mutations in patients with biopsy-proven primary glomerulonephritis
1个月前
已完结
Genotype-phenotype of autosomal dominant polycystic kidney disease in Malta
1个月前
已完结
Expanding the variability of the ADPKD-GANAB clinical phenotype in a family of Italian ancestry
1个月前
已完结
Clinical and genetic features of patients with amyotrophic lateral sclerosis in southern China
2个月前
已完结
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