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Publications by Helen J. Kim

Impaired PIEZO1 Function in Patients With a Novel Autosomal Recessive Congenital Lymphatic Dysplasia

Nature Communications

Molecular Biology

English

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

Molecular Syndromology

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

English

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

English

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

Journal of Medical Genetics

English

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

Journal of Integrative Cardiology

English

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

American Journal of Human Genetics

English

Acrocapitofemoral Dysplasia: An Autosomal Recessive Skeletal Dysplasia With Cone Shaped Epiphyses in the Hands and Hips

Journal of Medical Genetics

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

Molecular Biology

English

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

Molecular genetics & genomic medicine

Molecular Biology

English