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Publications by Claire J. Sineni
Identification of Candidate Gene FAM183A and Novel Pathogenic Variants in Known Genes: High Genetic Heterogeneity for Autosomal Recessive Intellectual Disability
PLoS ONE
Multidisciplinary
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GPR126 : A Novel Candidate Gene Implicated in Autosomal Recessive Intellectual Disability
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Mutations in NSUN2 Cause Autosomal- Recessive Intellectual Disability
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Biallelic Variants in LINGO1 Are Associated With Autosomal Recessive Intellectual Disability, Microcephaly, Speech and Motor Delay
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Insight to FBXO31 Novel Mutation p.Cys283Asn Causing Non‑Syndromic Autosomal Recessive Intellectual Disability Using Computational Methods
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Mutations in SNX14 Cause a Distinctive Autosomal-Recessive Cerebellar Ataxia and Intellectual Disability Syndrome
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TRAPPC9-related Autosomal Recessive Intellectual Disability: Report of a New Mutation and Clinical Phenotype
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Mutations in EOGT Confirm the Genetic Heterogeneity of Autosomal-Recessive Adams-Oliver Syndrome
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Assessment of Patient Clinical Descriptions and Pathogenic Variants From Gene Panel Sequences in the CAGI‐5 Intellectual Disability Challenge
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Novel Homozygous Mutation in the MYO15A Gene in Autosomal Recessive Hearing Loss
Zahedan Journal of Research in Medical Sciences
