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Publications by Jun Bu

Carbamoyl Phosphate Synthetase 1 Deficiency Diagnosed by Whole Exome Sequencing

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English

Related publications

Peroxisomal D-Bifunctional Protein Deficiency: Three Adults Diagnosed by Whole-Exome Sequencing

English

Molecular, Biochemical, and Clinical Analyses of Five Patients With Carbamoyl Phosphate Synthetase 1 Deficiency

Journal of Clinical Laboratory Analysis

Medical Laboratory Technology

Clinical Biochemistry

Occupational Health

English

Direct Demonstration of Carbamoyl Phosphate Formation on the C-Terminal Domain of Carbamoyl Phosphate Synthetase

Protein Science

Molecular Biology

English

Whole-Genome Sequencing Is More Powerful Than Whole-Exome Sequencing for Detecting Exome Variants

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

Multidisciplinary

English

Whole Exome Sequencing in Monogenic Dyslipidemias

Journal of Atherosclerosis and Thrombosis

Internal Medicine

Cardiovascular Medicine

English

Nucleotide Recognition in the ATP-grasp Protein Carbamoyl Phosphate Synthetase

Protein Science

Molecular Biology

English

Clinical Application of Whole-Exome Sequencing

English

Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization

Journal of Neurogenetics

Molecular Neuroscience

English

EP10.18: Whole-Exome Sequencing for Pathogenic Gene Discovery in Prenatally Diagnosed Dextrotransposition of the Great Arteries

Ultrasound in Obstetrics and Gynecology

Nuclear Medicine

Ultrasound Technology

Reproductive Medicine

English