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Publications by Tom Crins

Bi-Allelic Inactivating Variants in the COCH Gene Cause Autosomal Recessive Prelingual Hearing Impairment

European Journal of Human Genetics

English

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Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex

American Journal of Human Genetics

English

A NovelESRRBDeletion Is a Rare Cause of Autosomal Recessive Nonsyndromic Hearing Impairment Among Pakistani Families

Genetics Research International

Molecular Biology

English

Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss

Zahedan Journal of Research in Medical Sciences

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Genotype-Phenotype Correlation Analysis of MYO15A Variants in Autosomal Recessive Non-Syndromic Hearing Loss

BMC Medical Genetics

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

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Bi-Allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

American Journal of Human Genetics

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Prevalence of Cx26 (GJB2) Gene Mutations Causing Recessive Nonsyndromic Hearing Impairment in India

International Journal of Human Genetics

English

Respiratory Changes During Reading in Mandarin-Speaking Adolescents With Prelingual Hearing Impairment

Folia Phoniatrica et Logopaedica

English