Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Huirong Peng

Identifying SYNE1 Ataxia With Novel Mutations in a Chinese Population

Frontiers in Neurology

English

Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective

Multidisciplinary

English

Related publications

Twelve Novel Atm Mutations Identified in Chinese Ataxia Telangiectasia Patients

NeuroMolecular Medicine

Molecular Neuroscience

Molecular Medicine

English

Known and Novel Mutations Responsible for Epidermolysis Bullosa Simplex Cases in a Chinese Population

Experimental and Therapeutic Medicine

Cancer Research

English

Two Novel NPHS1 Mutations in a Chinese Family With Congenital Nephrotic Syndrome

Genetics and Molecular Research

Molecular Biology

English

Identifying Obesity Indicators Which Best Correlate With Type 2 Diabetes in a Chinese Population

BMC Public Health

Occupational Health

English

Ataxia-Pancytopenia Syndrome With SAMD9L Mutations

Neurology: Genetics

English

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family With Episodic Ataxia 2

Multidisciplinary

English

Novel NPHS1 Splice Site Mutations in a Chinese Child With Congenital Nephrotic Syndrome

Genetics and Molecular Research

Molecular Biology

English

Novel Β-Crystallin Gene Mutations in Chinese Families With Nuclear Cataracts

Archives of Ophthalmology

English