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Publications by M. Faghankhani

410 Pyrin-Associated Auto-Inflammation With Neutrophilic Dermatosis (PAAND): Novel Autosomal Recessive MEFV Mutation and Successful Treatment With Colchicine

Journal of Investigative Dermatology

English

Related publications

Successful Lung Transplant for Bronchiectasis in an Adult Male With Autosomal Recessive Chronic Granulomatous Disease With a Novel NF1 Gene Mutation

Journal of Allergy and Clinical Immunology

Allergy

Immunology

2016

English

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

Journal of Human Genetics

Genetics

2006

English

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

English

Complement Factor H Gene Mutation Associated With Autosomal Recessive Atypical Hemolytic Uremic Syndrome

American Journal of Human Genetics

Genetics

1999

English

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

English

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

Experimental Dermatology

English

A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Molecular Syndromology

Genetics

2017

English

Birth Prevalence and Mutation Spectrum in Danish Patients With Autosomal Recessive Albinism

Investigative Ophthalmology and Visual Science

Molecular Neuroscience

English

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by M. Faghankhani

410 Pyrin-Associated Auto-Inflammation With Neutrophilic Dermatosis (PAAND): Novel Autosomal Recessive MEFV Mutation and Successful Treatment With Colchicine

Related publications

Successful Lung Transplant for Bronchiectasis in an Adult Male With Autosomal Recessive Chronic Granulomatous Disease With a Novel NF1 Gene Mutation

A Novel Missense Mutation in MSX1 Underlies Autosomal Recessive Oligodontia With Associated Dental Anomalies in Pakistani Families

A Novel NR2E3 Gene Mutation in Autosomal Recessive Retinitis Pigmentosa With Cystic Maculopathy

Complement Factor H Gene Mutation Associated With Autosomal Recessive Atypical Hemolytic Uremic Syndrome

Mutation in the Intracellular Chloride Channel CLCC1 Associated With Autosomal Recessive Retinitis Pigmentosa

Autosomal Recessive Woolly Hair With Hypotrichosis Caused by a Novel Homozygous Mutation in theP2RY5gene

A Novel Loss-Of-Function Mutation in HOXB1 Associated With Autosomal Recessive Hereditary Congenital Facial Palsy in a Large Iranian Family

Birth Prevalence and Mutation Spectrum in Danish Patients With Autosomal Recessive Albinism

Case Report: Whole Exome Sequencing Reveals a Novel Frameshift Deletion Mutation p.G2254fs in COL7A1 Associated With Autosomal Recessive Dystrophic Epidermolysis Bullosa