Human Genome Variation
短名 | Hum. Genome Var. |
Journal Impact | 0.85 |
国际分区 | GENETICS & HEREDITY(Q4) |
ISSN | 2054-345X |
h-index | 23 |
涉及主题 | 生物遗传学化学生物化学基因医学突变内科学表型心理学病理精神科等位基因错义突变儿科内分泌学 |
出版信息 | 出版商: Nature Publishing Group,出版周期: ,期刊类型: journal |
基本数据 | 创刊年份: 2014,原创研究文献占比: 93.48%,自引率:10.00%, Gold OA占比: 98.35% |
平均审稿周期 | 网友分享经验:13 Weeks |
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Genetic investigation of patients with autosomal recessive ataxia and identification of two novel variants in the SQSTM1 and SYNE1 genes
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Epigenetic regulation of the nuclear genome associated with mitochondrial dysfunction in Leber’s hereditary optic neuropathy (LHON)
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia
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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
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A case of infantile spasms with three possibly pathogenic de novo missense variants in NF1 and GABBR1
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Correction: Identification of a novel nonsense NOG mutation in a patient with stapes ankylosis and symphalangism spectrum disorder
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A novel de novo canonical splice site mutation in the PTCH1 gene in a male patient with mild psychomotor retardation and autistic traits: a case report
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Novel splice site variant of TMEM38B in osteogenesis imperfecta type XIV
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Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia
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Leigh-like syndrome with progressive cerebellar atrophy caused by novel HIBCH variants
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Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features
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X-linked intellectual disability related to a novel variant of KLHL15
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