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Publications by Guangna Cao

Genetic Variants of Methionine Metabolism and X-Ald Phenotype Generation: Results of a New Study Sample

Journal of Neurology

English

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A New System Identification Approach to Identify Genetic Variants in Sequencing Studies for a Binary Phenotype

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Genetic Study of a New X-Linked Recessive Immunodeficiency Syndrome.

Journal of Clinical Investigation

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Isovaleric Acidemia: A New Genetic Defect of Leucine Metabolism.

Proceedings of the National Academy of Sciences of the United States of America

Multidisciplinary

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Genetic Modification of the Schisis Phenotype in a Mouse Model of X-Linked Retinoschisis

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A New Case of SMA Phenotype Without Epilepsy Due to Biallelic Variants in ASAH1

European Journal of Human Genetics

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Identification of Functionally Defective CYP4F11 Genetic Variants in Erythromycin Metabolism and 20-Hete Synthesis

Clinical Therapeutics

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Power and Sample Size of Two-Stage Extreme Phenotype Sequencing Design for Next Generation Sequencing Studies

BMC Bioinformatics

Applied Mathematics

Computer Science Applications

Structural Biology

Molecular Biology

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PCSK9 Genetic Variants and Risk of Type 2 Diabetes: A Mendelian Randomisation Study

The Lancet Diabetes and Endocrinology

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Targeted Next Generation Sequencing Identifies a Genetic Spectrum of DNA Variants in Patients With Hemiplegic Migraine

Cephalalgia Reports

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