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Publications by NIU LI

Causal Variants Screened by Whole Exome Sequencing in a Patient With Maternal Uniparental Isodisomy of Chromosome 10 and a Complicated Phenotype

Experimental and Therapeutic Medicine

Cancer Research

English

Related publications

Whole Exome Sequencing in a Patient With Uniparental Disomy of Chromosome 2 and a Complex Phenotype

Clinical Genetics

English

Maternal Uniparental Isodisomy for Chromosome 6 Discovered by Paternity Testing: A Case Report

Molecular Cytogenetics

Molecular Medicine

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

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing

Hormone Research in Paediatrics

English

Whole‐exome Sequencing Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine

Molecular Biology

English

FIG4 Variants in Central European Patients With Amyotrophic Lateral Sclerosis: A Whole-Exome and Targeted Sequencing Study

European Journal of Human Genetics

English

Whole Exome Sequencing of Rare Variants in EIF4G1 and VPS35 in Parkinson Disease

English

Whole Exome Sequencing Identifies Rare Protein-Coding Variants in Behçet's Disease

Arthritis and Rheumatology

English

Whole Exome Sequencing Identifies CRB1 Defect in an Unusual Maculopathy Phenotype

English