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Publications by Carlos A. Garcia

Periaxin Mutations Cause Recessive Dejerine-Sottas Neuropathy

American Journal of Human Genetics

English

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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

American Journal of Human Genetics

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P569 Dejerine-Sottas Syndrome and Cranio-Facial Dysmorphisms: A Case Report

English

Mutations in XRCC1 Cause Cerebellar Ataxia and Peripheral Neuropathy

Journal of Neurology, Neurosurgery and Psychiatry

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Loss-Of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

American Journal of Human Genetics

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

American Journal of Human Genetics

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Non-Syndromic Recessive Auditory Neuropathy Is the Result of Mutations in the Otoferlin (OTOF) Gene

Journal of Medical Genetics

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Mutations in KARS Cause a Severe Neurological and Neurosensory Disease With Optic Neuropathy

English

Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome

American Journal of Human Genetics

English