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Publications by S J Bale

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Journal of Medical Genetics

Genetics

2008

English

Related publications

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

American Journal of Human Genetics

Genetics

1997

English

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

Journal of Integrative Cardiology

2020

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

English

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

Journal of the American Academy of Dermatology

Dermatology

2016

English

Novel Transglutaminase 1 Mutations in Patients Affected by Lamellar Ichthyosis

Cell Death and Disease

Molecular Neuroscience

English

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Molecular genetics & genomic medicine

Genetics

Molecular Biology

2019

English

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

European Journal of Human Genetics

Genetics

2017

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

Genetics

2011

English

102 Proteins Causing Autosomal Congenital Recessive Ichthyosis (ARCI) Colocalize in Differentiated Primary Keratinocytes and the Interactions Are Altered in Cells From Patients With TGM1 Mutations

Journal of Investigative Dermatology

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by S J Bale

Novel Transglutaminase-1 Mutations and Genotype-Phenotype Investigations of 104 Patients With Autosomal Recessive Congenital Ichthyosis in the USA

Related publications

Transglutaminase 1 Mutations in Autosomal Recessive Congenital Ichthyosis: Private and Recurrent Mutations in an Isolated Population

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

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Comparing Histopathology From Patients With X-Linked Recessive Ichthyosis and Autosomal Recessive Congenital Ichthyosis With Transglutaminase 1 Mutation: A Report From the National Registry for Ichthyosis and Related Skin Disorders

Novel Transglutaminase 1 Mutations in Patients Affected by Lamellar Ichthyosis

Targeted Regions Sequencing Identified Four Novel PNPLA1 Mutations in Two Chinese Families With Autosomal Recessive Congenital Ichthyosis

Autosomal Recessive Congenital Ichthyosis: CERS3 Mutations Identified by a Next Generation Sequencing Panel Targeting Ichthyosis Genes

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

102 Proteins Causing Autosomal Congenital Recessive Ichthyosis (ARCI) Colocalize in Differentiated Primary Keratinocytes and the Interactions Are Altered in Cells From Patients With TGM1 Mutations