Research paper

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  • Muhammad Umair

    Frontonasal dysplasia: a review

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  • Ahmed Alfares

    Genomics in Saudi Arabia Call for Data-Sharing Policy

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  • Maram Alojair

    Recessive ARFGEF2 mutation causes progressive microcephaly, epilepsy, and a distinct MRI pattern

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  • Kimberly A Coughlan

    Generation of a mouse model of Primary Hyperoxaluria Type 1 via CRISPR/Cas9 mediated gene editing

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  • Mazhor Aldosary

    Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis

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  • Muhsin Elmas

    Association of vitamin D level and CYP27B1 gene polymorphism with multiple sclerosis in Turkish population

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  • Maher Mohammed Al-Hatlani

    A new pathogenic homozygous variant in deoxyguanosine kinase gene cause vital progressive liver failure in a neonate: case report

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  • Mohammed Almuqbil

    Prevalence of neurometabolic diseases in Saudi Arabia

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  • Lamya Ahmad Faisal Alrayes

    A Saudi child with Sphingosine Phosphate Lyase insufficiency syndrome

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  • Gulhan Gurel

    A case of autosomal recessive congenital ichthyosis with a novel mutation identified in the TGM1 gene by whole exome sequencing

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