Showing 1 - 6 results of 6 for search 'Sasirekha Palaniswamy (14152563)', query time: 0.01s Refine Results
  1. 1
    Patterns and distribution of de novo mutations in multiplex Middle Eastern families

    Patterns and distribution of de novo mutations in multiplex Middle Eastern families by Muhammad Kohailan (748774)

    Published 2022
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  2. 2
    A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6 </i>in a Family with Popliteal Pterygium and Van der Woude Syndromes

    A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6 </i>in a Family with Popliteal Pterygium and Van der Woude Syndromes by Alya A. Al-Kurbi (18324927)

    Published 2023
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  3. 3
    A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review

    A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review by Aljazi Al-Maraghi (14056975)

    Published 2024
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  4. 4
    Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder

    Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder by Rulan Shaath (17112852)

    Published 2024
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  5. 5
    Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study

    Genomic architecture of autism spectrum disorder in Qatar: The BARAKA-Qatar Study by Mona Abdi (10196665)

    Published 2023
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  6. 6
    Burden of Mendelian disorders in a large Middle Eastern biobank

    Burden of Mendelian disorders in a large Middle Eastern biobank by Waleed Aamer (14056969)

    Published 2024
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