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Publications by Shenqian Li

A Novel COL4A4 Mutation Identified in a Chinese Family With Thin Basement Membrane Nephropathy

Scientific Reports

Multidisciplinary

English

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Targeted Next-Generation Sequencing Identified a Novel ANK1 Mutation Associated With Hereditary Spherocytosis in a Chinese Family

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A Novel APOC2 Gene Mutation Identified in a Chinese Patient With Severe Hypertriglyceridemia and Recurrent Pancreatitis

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Identification of a Novel TCOF1 Mutation in a Chinese Family With Treacher Collins Syndrome

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A Novel Mutation in the WFS1gene Identified in a Taiwanese Family With Low-Frequency Hearing Impairment

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Novel Homozygous PANK2 Mutation Identified in a Consanguineous Chinese Pedigree With Pantothenate Kinase-Associated Neurodegeneration

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Obesity Associated With a Novel Mitochondrial tRNACys 5802A>G Mutation in a Chinese Family

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A Novel FBN2 Mutation Cosegregates With Congenital Contractural Arachnodactyly in a Five-Generation Chinese Family

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A Novel Compound Heterozygous Variant Identified in GLDC Gene in a Chinese Family With Non-Ketotic Hyperglycinemia

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a Novel HSF4 Gene Mutation Causes Autosomal-Dominant Cataracts in a Chinese Family

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