يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"AlRuways, Sarah"', وقت الاستعلام: 0.28s تنقيح النتائج
  1. 1
    Academic Journal
    Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature

    المؤلفون: AlQudairy, Hanan, AlDhalaan, Hesham, AlRuways, Sarah, AlMutairi, Nouf, AlNakiyah, Maha, AlGhofaili, Reema, AlBakheet, Albandary, Alomrani, Adeeb, Alharbi, Omar A., Tous, Ehab, AlSayed, Moeen, AlZaidan, Hamad, AlRasheed, Maha M., AlOdaib, Ali, Kaya, Namik

    المصدر: Frontiers in Pediatrics ; volume 10 ; ISSN 2296-2360

    الاتاحة: http://dx.doi.org/10.3389/fped.2022.1051534
    https://www.frontiersin.org/articles/10.3389/fped.2022.1051534/full

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  2. 2
    Academic Journal
    A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts

    المؤلفون: Aldhalaan, Hesham, AlBakheet, Albandary, Alruways, Sarah, Almutairi, Nouf, Alnakiyah, Maha, Alghofaili, Reema, Cardona-Londoño, Kelly J., Alahmadi, Khalid Omar, AlQudairy, Hanan, Alrasheed, Maha M., Colak, Dilek, Arold, Stefan T., Kaya, Namik

    المساهمون: Bioengineering, Biological and Environmental Science and Engineering (BESE) Division, Bioscience Program, Computational Bioscience Research Center (CBRC), Structural Biology and Engineering, Neurosciences Department, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia, Translational Genomic Department, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia, Clinical Pharmacy Department, College of Pharmacy, King Saud University, Riyadh, 11211, Saudi Arabia, Department of Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia, Department of Biostatistics, Epidemiology and Scientific Computing, King Faisal Specialist Hospital and Research Centre, Riyadh, 11211, Saudi Arabia

    وصف الملف: application/pdf

    Relation: https://www.mdpi.com/2073-4425/13/1/92; Aldhalaan, H., AlBakheet, A., AlRuways, S., AlMutairi, N., AlNakiyah, M., AlGhofaili, R., … Kaya, N. (2021). A Novel GEMIN4 Variant in a Consanguineous Family Leads to Neurodevelopmental Impairment with Severe Microcephaly, Spastic Quadriplegia, Epilepsy, and Cataracts. Genes, 13(1), 92. doi:10.3390/genes13010092; 2-s2.0-85121997132; Genes; 92; http://hdl.handle.net/10754/675014; 13

    الاتاحة: http://hdl.handle.net/10754/675014
    https://doi.org/10.3390/genes13010092

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