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天真小甜瓜
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270 积分
2023-12-05 加入
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Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service
2小时前
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Genetic characteristics and clinical manifestations of foveal hypoplasia in familial exudative vitreoretinopathy
10天前
已完结
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
13天前
已完结
A heterozygous SERPINB7 mutation is a possible modifying factor for epidermolytic palmoplantar keratoderma
15天前
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Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes
15天前
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Exome sequencing reveals genetic architecture in patients with isolated or syndromic short stature
18天前
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Biallelic DNAH9 mutations are identified in Chinese patients with defective left–right patterning and cilia-related complex congenital heart disease
21天前
已完结
LRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION
25天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
25天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
25天前
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