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Publications by Bi-Rong Guo

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Journal of Medical Genetics

English

Related publications

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

Corrigendum: Loss-Of-Function Mutations of an Inhibitory Upstream ORF in the Human Hairless Transcript Cause Marie Unna Hereditary Hypotrichosis

Nature Genetics

English

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

Journal of Human Genetics

English

Exome Sequencing Identifies a DYNC1H1 Mutation in a Large Pedigree With Dominant Axonal Charcot-Marie-Tooth Disease

American Journal of Human Genetics

English

Identification of a Novel Missense FBN2 Mutation in a Chinese Family With Congenital Contractural Arachnodactyly Using Exome Sequencing

Multidisciplinary

English

A De Novo Heterozygous Frameshift Mutation Identified in BCL11B Causes Neurodevelopmental Disorder by Whole Exome Sequencing

Molecular genetics & genomic medicine

Molecular Biology

English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology

Forensic Medicine

English

Targeted Next-Generation Sequencing Identified a Novel ANK1 Mutation Associated With Hereditary Spherocytosis in a Chinese Family

English

GCH1 Heterozygous Mutation Identified by Whole-Exome Sequencing as a Treatable Condition in a Patient Presenting With Progressive Spastic Paraplegia

Journal of Neurology

English