Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Xianting Li

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

PLoS Genetics

English

Fast and Accurate Calculation of the Soil Temperature Distribution Around Ground Heat Exchanger Based on a Response Factor Model

2017

English

Related publications

Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta

Journal of Medical Genetics

Genetics

2004

English

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

American Journal of Human Genetics

Genetics

2008

English

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Circulation Research

Cardiovascular Medicine

Physiology

Cardiology

2003

English

Mutation of COL11A2 Causes Autosomal Recessive Non-Syndromic Hearing Loss at the DFNB53 Locus

Journal of Medical Genetics

Genetics

2005

English

INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

Clinical Genetics

Genetics

2018

English

An Autosomal Recessive Form of Alagille-Like Syndrome That Is Not Linked to JAG1

English

Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2RY5 Mutation

Genomics

Genetics

2008

English

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Journal of Integrative Cardiology

2020

English

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss

PLoS ONE

Multidisciplinary

2012

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Xianting Li

A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects

Fast and Accurate Calculation of the Soil Temperature Distribution Around Ground Heat Exchanger Based on a Response Factor Model

Related publications

Mutation in Kallikrein 4 Causes Autosomal Recessive Hypomaturation Amelogenesis Imperfecta

Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy

A Splice Mutation in a Syrian Autosomal Recessive Hypercholesterolemia Family Causes a Two-Nucleotide Deletion of mRNA

Mutation of COL11A2 Causes Autosomal Recessive Non-Syndromic Hearing Loss at the DFNB53 Locus

INPP5K Variant Causes Autosomal Recessive Congenital Cataract in a Pakistani Family

An Autosomal Recessive Form of Alagille-Like Syndrome That Is Not Linked to JAG1

Genome-Wide Linkage Analysis of an Autosomal Recessive Hypotrichosis Identifies a Novel P2RY5 Mutation

A Novel Missence Mutation in the Transglutaminase-1 Gene in an Autosomal Recessive Congenital Ichthyosis Patient

Exome Sequencing Identifies a Founder Frameshift Mutation in an Alternative Exon of USH1C as the Cause of Autosomal Recessive Retinitis Pigmentosa With Late-Onset Hearing Loss