Showing 1 - 2 results of 2 for search 'Janhawi Kelkar', query time: 0.01s Refine Results
  1. 1
    Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <i>SPR</i> and <i>ZNF142</i>: A Case Report and Review of the UPD2 Literature

    Maternal Uniparental Isodisomy of Chromosome 2 Leading to Homozygous Variants in <i>SPR</i> and <i>ZNF142</i>: A Case Report and Review of the UPD2 Literature by Janhawi Kelkar, Miriam DiMaio, Deqiong Ma, Hui Zhang

    Published 2024-01-01
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  2. 2
    P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency

    P065: Canonical splice variant c.298+2T>C in OTC associated with attenuated ornithine transcarbamylase deficiency by Janhawi Kelkar, Yu Leng Phua, Chunli Yu, Colleen Donnelly, Mary LoPiccolo

    Published 2025-01-01
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