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Publications by Lia Abbasi-Moheb

Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability

American Journal of Human Genetics

English

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

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Mutations in FYCO1 Cause Autosomal-Recessive Congenital Cataracts

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Recessive Truncating Mutations in ALKBH8 Cause Intellectual Disability and Severe Impairment of Wobble Uridine Modification

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GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability

American Journal of Medical Genetics, Part A

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

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Mutations of CEP83 Cause Infantile Nephronophthisis and Intellectual Disability

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TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype

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

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Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay

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