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Publications by Natalia Malchin

Calpain 12 Function Revealed Through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

Journal of Investigative Dermatology

English

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Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

English

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

Journal of Integrative Cardiology

2020

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

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

American Journal of Human Genetics

Genetics

1997

English

NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

Veterinary Medicine and Science

Veterinary

2019

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

383 Preclinical Safety and Pharmacology of KB105, an HSV-based Gene Therapy Vector for the Treatment of Autosomal Recessive Congenital Ichthyosis (ARCI)

Journal of Investigative Dermatology

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

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

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by Natalia Malchin

Calpain 12 Function Revealed Through the Study of an Atypical Case of Autosomal Recessive Congenital Ichthyosis

Related publications

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

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

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

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

NIPAL4 Deletion Identified in an American Bully With Autosomal Recessive Congenital Ichthyosis and Response to Topical Therapy

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

383 Preclinical Safety and Pharmacology of KB105, an HSV-based Gene Therapy Vector for the Treatment of Autosomal Recessive Congenital Ichthyosis (ARCI)

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

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