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Publications by Liangying Zhong

Dent Disease in Chinese Children and Findings From Heterozygous Mothers: Phenotypic Heterogeneity, Fetal Growth, and 10 Novel Mutations

Journal of Pediatrics

English

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Molecular and Phenotypic Abnormalities in Individuals With Germline Heterozygous PTEN Mutations and Autism

Molecular Psychiatry

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Molecular Biology

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Mutation Analysis of 73 Southern Chinese Wilson's Disease Patients: Identification of 10 Novel Mutations and Its Clinical Correlation

Journal of Human Genetics

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Novel PYGL Mutations in Chinese Children Leading to Glycogen Storage Disease Type VI: Two Case Reports

BMC Medical Genetics

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Functional and Phenotypic Heterogeneity of Th17 Cells in Health and Disease

European Journal of Clinical Investigation

Clinical Biochemistry

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

American Journal of Human Genetics

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From Lowe Syndrome to Dent Disease: Correlations Between Mutations of the OCRL1 Gene and Clinical and Biochemical Phenotypes

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Three Novel Α-L-Iduronidase Mutations in 10 Unrelated Chinese Mucopolysaccharidosis Type I Families

Genetics and Molecular Biology

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Comparison of Clinical Findings Between Lowe Syndrome and Dent Disease With OCRL 1 Mutation

Nihon Shoni Jinzobyo Gakkai Zasshi

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Novel Heterozygous Mutations in JAG1 and NOTCH2 Genes in a Neonatal Patient With Alagille Syndrome

Case Reports in Pediatrics

English