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Publications by Chipui Pang

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

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

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

Experimental and Therapeutic Medicine

English

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

Molecular Syndromology

Genetics

2016

English

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

Neurobiology of Aging

Aging

Gerontology

Developmental Biology

English

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

PLoS ONE

Multidisciplinary

2016

English

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Frontiers in Genetics

Genetics

Molecular Medicine

2018

English

Whole-Exome Sequencing Analysis of Waardenburg Syndrome in a Chinese Family

Human Genome Variation

English

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

Hernia : the journal of hernias and abdominal wall surgery

Surgery

2016

English

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

BioMed Research International

English

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

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Chipui Pang

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

Related publications

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

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

Exome Sequencing in a Consanguineous Family Clinically Diagnosed With Early-Onset Alzheimer's Disease Identifies a Homozygous CTSF Mutation

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

Whole Exome Sequencing Identified a Novel Heterozygous Mutation in HMBS Gene in a Chinese Patient With Acute Intermittent Porphyria With Rare Type of Mild Anemia

Whole-Exome Sequencing Analysis of Waardenburg Syndrome in a Chinese Family

Whole-Exome Sequencing Identifies a Potential TTN Mutation in a Multiplex Family With Inguinal Hernia

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

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