Lv51
1280 积分 2023-08-30 加入
Complex ATP7B mutation patterns in Wilson disease and evaluation of a yeast model for functional analysis of variants
4小时前
已完结
From Wilson's Disease to Neurodevelopmental Disorder with Involuntary Movements, Different Genetic Interpretations in a Female Patient
4小时前
已完结
From mechanism to ecosystem: building bridges between ecoimmunology, psychoneuroimmunology and disease ecology
10天前
已完结
Whole exome sequencing of six Chinese families with hereditary non-syndromic hearing loss
13天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
13天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
13天前
已完结
Lowe syndrome – Old and new evidence of secondary mitochondrial dysfunction
15天前
已完结
Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
15天前
已完结
RNA sequencing combined with whole-exome sequencing revealed familial homocystinemia due to MTHFR deficiency and its complex splicing events
1个月前
已完结
α-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: A disease of the sarcomere
2个月前
已完结
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