Lv11
40 积分 2022-06-14 加入
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
10小时前
已完结
Neonatal Manifestations of Chronic Granulomatous Disease: MAS/HLH and Necrotizing Pneumonia as Unusual Phenotypes and Review of the Literature
12小时前
已完结
[A classic case with maple syrup urine disease caused by compound heterozygous mutations of BCKDHB gene]
20天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis ofmut-type methylmalonic acidemia in 365 Chinese cases
21天前
已完结
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants
21天前
已完结
Search for the potential “second-hit” mechanism underlying the onset of familial hemophagocytic lymphohistiocytosis type 2 by whole-exome sequencing analysis
1个月前
已完结
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
1个月前
已完结
Characteristic genetic spectrum of primary ciliary dyskinesia in Japanese patients and global ethnic heterogeneity: population-based genomic variation database analysis
1个月前
已完结
Genetic diagnosis of childhood sensorineural hearing loss
1个月前
已关闭
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