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xiaolingc
Lv1
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60 积分
2023-12-04 加入
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Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?
10小时前
求助中
Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia
13天前
已完结
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
1个月前
已完结
Mutation screening of the TYR and P gene in three patients with oculocutaneous albinism
1个月前
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Clinical and Molecular Characterization of Familial Exudative Vitreoretinopathy Associated With Microcephaly
1个月前
已完结
A novel ACAD8 mutation in asymptomatic patients with isobutyryl‐CoA dehydrogenase deficiency and a review of the ACAD8 mutation spectrum
2个月前
已完结
Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population
3个月前
已完结
Mutations of the human polycystic kidney disease 2 (PKD2) gene
5个月前
已完结
Aberrant Splicing in the PKD2 Gene as a Cause of Polycystic Kidney Disease
5个月前
已完结
Clinical description, molecular delineation and genotype–phenotype correlation in 340 patients with KBG syndrome: addition of 67 new patients
5个月前
已完结
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