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Publications by Yuhe Liu

[PROVISIONAL] Whole Exome Sequencing Identifies a Novel Variant in an Apoptosis-Inducing Factor Gene Associated With X-Linked Recessive Hearing Loss in a Chinese Family

Genetics and Molecular Biology

Genetics

Molecular Biology

2019

English

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

Genome Biology

2011

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 Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Frontiers in Immunology

Allergy

Immunology

2017

English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

English

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

Human Genome Variation

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Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

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 Identified a Novel Variant in an Iranian Patient Affected by Pycnodysostosis

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2020

English

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa

Scientific Reports

Multidisciplinary

2016

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Yuhe Liu

[PROVISIONAL] Whole Exome Sequencing Identifies a Novel Variant in an Apoptosis-Inducing Factor Gene Associated With X-Linked Recessive Hearing Loss in a Chinese Family

Related publications

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

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

Exome Sequencing Identifies a Novel MAP3K14 Mutation in Recessive Atypical Combined Immunodeficiency

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

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

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

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

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

Whole Exome Sequencing Identified Novel CRB1 Mutations in Chinese and Indian Populations With Autosomal Recessive Retinitis Pigmentosa