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Lv1
60 积分
2023-11-24 加入
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CD40 Ligand Deficiency in Latin America: Clinical, Immunological, and Genetic Characteristics
2天前
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Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study
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Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb‐girdle muscular dystrophy
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Ocular findings and a comparative study of hair, skin and iris color in Chinese patients with albinism
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Clinicopathological and molecular characteristics of fumarate hydratase–deficient uterine smooth muscle tumors: a single-center study of 52 cases
16天前
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Clinicopathological and molecular characteristics of fumarate hydratase–deficient uterine smooth muscle tumors: a single-center study of 52 cases
19天前
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Genetic analysis and identification of novel variations in Chinese patients with pediatric epilepsy by whole-exome sequencing
22天前
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Outcome and etiology of fetal pleural effusion, fetal ascites, and hydrops fetalis after fetal intervention: retrospective observational cohort from a single institution
1个月前
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Mutation profile of Bardet‐Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
1个月前
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[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]
2个月前
已完结
没有进行任何应助
可以找下补充材料吗,谢谢
3个月前
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