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Publications by Xiaoru Xia

Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree With Early-Onset Gout

BioMed Research International

Molecular Biology

English

Related publications

A Rare ANOS1 Variant in Siblings With Kallmann Syndrome Identified by Whole Exome Sequencing

Reproductive Medicine

English

Exome Sequencing Identifies a Novel Missense Variant in RRM2B Associated With Autosomal Recessive Progressive External Ophthalmoplegia

English

Whole Exome Sequencing Identifies a Novel Dominant Missense Mutation Underlying Leukonychia in a Pakistani Family

Journal of Human Genetics

English

Whole-Exome Sequencing Reveals Novel USP9X Variant in Female Fetus With Isolated Agenesis of the Corpus Callosum

Clinical Case Reports

English

Exome Sequencing Reveals a Novel MFN2 Missense Mutation in a Chinese Family With Charcot‑Marie‑Tooth Type 2A

Experimental and Therapeutic Medicine

Cancer Research

English

Variant Detection Sensitivity and Biases in Whole Genome and Exome Sequencing

BMC Bioinformatics

Applied Mathematics

Computer Science Applications

Structural Biology

Molecular Biology

English

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

Molecular genetics & genomic medicine

Molecular Biology

English

Exome Sequencing Reveals a Heterozygous OAS3 Mutation in a Chinese Family With Juvenile-Onset Open-Angle Glaucoma

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

Sensory Systems

English

Whole Exome Sequencing Reveals a Mutation in CRYBB2 in a Large Mexican Family With Autosomal Dominant Pulverulent Cataract

Molecular Syndromology

English