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Publications by Xiaoting Mao

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

Bioscience Reports

Molecular Biology

English

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Mitochondrial tRNAIle A4317G Mutation May Be Associated With Hearing Impairment in a Han Chinese Family

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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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Identification and Functional Analysis of a Novel MIP Gene Mutation Associated With Congenital Cataract in a Chinese Family

Multidisciplinary

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A Novel GJB1 Mutation Associated With X‐linked Charcot–Marie–Tooth Disease in a Large Chinese Family Pedigree

Molecular genetics & genomic medicine

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

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

Scientific Reports

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Mutation in the Novel Nuclear-Encoded Mitochondrial Protein CHCHD10 in a Family With Autosomal Dominant Mitochondrial Myopathy

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

Clinical Case Reports

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

G3: Genes, Genomes, Genetics

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