Associated Papers
Whole Exome Sequencing of a Multiplex Family of Indian Origin Identifies Variants in the RAI1 and FLII Genes within the 17p11.2 Region in Siblings with Autism and Smith Magenis Syndrome.
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Molecular Syndromology, 2024
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLRBS7_het
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
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Frontiers in Oncology, 2022
36387175 (PubMed )
Supplement: Table_6.xlsx › Table_S6
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