Lv11
50 积分 2022-09-05 加入
Hb Wanjiang: A New β-Globin Chain Variant with Two Amino Acid Substitutions (HBB: c.255_264delinsTTTTTCTCAG)
3小时前
已完结
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13
2天前
已完结
Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA<sup>(UUR)</sup> gene
8天前
已完结
Comprehensive Scanning of the Entire Mitochondrial Genome for Mutations
1个月前
已完结
Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants
3个月前
已完结
Differences in onset between eyes in patients with Leber's hereditary optic neuropathy (LHON)
4个月前
已关闭
Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
4个月前
已关闭
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment
5个月前
已完结
Pathogenic variants in TNRC6B cause a genetic disorder characterised by developmental delay/intellectual disability and a spectrum of neurobehavioural phenotypes including autism and ADHD
5个月前
已关闭
Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
7个月前
已完结
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