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Publications by J H Asher

Congenital Non-Syndromal Autosomal Recessive Deafness in Bengkala, an Isolated Balinese Village.

Journal of Medical Genetics

Genetics

1995

English

Related publications

Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness

Journal of Medical Genetics

Genetics

2001

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

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

Genetics

2011

English

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

2020

English

DFNB20: A Novel Locus for Autosomal Recessive, Non-Syndromal Sensorineural Hearing Loss Maps to Chromosome 11q25–qter

European Journal of Human Genetics

Genetics

1999

English

Hirschsprung Disease Associated With Polydactyly, Unilateral Renal Agenesis, Hypertelorism, and Congenital Deafness: A New Autosomal Recessive Syndrome.

Journal of Medical Genetics

Genetics

1988

English

A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.

Journal of Medical Genetics

Genetics

1989

English

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Experimental Dermatology

English

Autosomal Recessive Severe Congenital Neutropenia Due to G6PC3 Deficiency

2020

English

Amanote Research

Discover open access scientific publications

Search, annotate, share and cite publications

Publications by J H Asher

Congenital Non-Syndromal Autosomal Recessive Deafness in Bengkala, an Isolated Balinese Village.

Related publications

Novel Mutations of TMPRSS3 in Four DFNB8/B10 Families Segregating Congenital Autosomal Recessive Deafness

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

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

Autosomal Recessive Palmoplantar Keratoderma and Congenital Alopecia

DFNB20: A Novel Locus for Autosomal Recessive, Non-Syndromal Sensorineural Hearing Loss Maps to Chromosome 11q25–qter

Hirschsprung Disease Associated With Polydactyly, Unilateral Renal Agenesis, Hypertelorism, and Congenital Deafness: A New Autosomal Recessive Syndrome.

A New Syndrome of Autosomal Recessive Nephropathy, Deafness, and Hyperparathyroidism.

Functional Study ofTGM1missense Mutations in Autosomal Recessive Congenital Ichthyosis

Autosomal Recessive Severe Congenital Neutropenia Due to G6PC3 Deficiency