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Publications by Xian-Fa Tang

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

Journal of Medical Genetics

Genetics

2012

English

A Simple Oligonucleotide Biochip Capable of Rapidly Detecting Known Mitochondrial DNA Mutations in Chinese Patients With Leber’S Hereditary Optic Neuropathy (LHON)

Disease Markers

Biochemistry

Medicine

Clinical Biochemistry

Molecular Biology

Genetics

2011

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

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

Nature Genetics

Genetics

2009

English

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

Journal of Human Genetics

Genetics

2018

English

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

American Journal of Human Genetics

Genetics

2011

English

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

PLoS ONE

Multidisciplinary

2016

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

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

English

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

Hematology

2019

English

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

Journal of Neurology

Neurology

2014

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Xian-Fa Tang

Exome Sequencing Identified a Missense Mutation ofEPS8L3in Marie Unna Hereditary Hypotrichosis

A Simple Oligonucleotide Biochip Capable of Rapidly Detecting Known Mitochondrial DNA Mutations in Chinese Patients With Leber’S Hereditary Optic Neuropathy (LHON)

Related publications

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

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

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

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

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

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

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

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

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