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1 |
Material Type: Report
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SARS-CoV-2-Related Acute Respiratory Distress Syndrome Uncovers a Patient with Severe Combined Immunodeficiency DiseaseAl-Saud, Bandar ; Hazzazi, Khaled M ; Mohammed, Reem ; Al Najjar, Alaa ; Al Hazmi, Tariq ; Monies, Dorota ; Alkuraya, Fowzan SJournal of clinical immunology, 2021, Vol.41 (7), p.1507-1510Texto completo disponível |
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2 |
Material Type: Report
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Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B GeneWakil, Salma M ; Monies, Dorota ; Hagos, Samya ; Al-Ajlan, Fahad ; Finsterer, Josef ; Al Qahtani, Aisha ; Ramzan, Khushnooda ; Al Humaidy, Rawan ; Al-Muhaizea, Mohamed A ; Meyer, Brian ; Bohlega, Saeed ACase reports in genetics, 2018, Vol.2018, p.9468049-9468049Texto completo disponível |
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3 |
Material Type: Report
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Allelic heterogeneity in inbred populations: The Saudi experience with Alström syndrome as an illustrative exampleAldahmesh, Mohamed A. ; Abu-Safieh, Leen ; Khan, Arif O. ; Al-Hassnan, Zuhair N. ; Shaheen, Ranad ; Rajab, Mohammed ; Monies, Dorota ; Meyer, Brian F. ; Alkuraya, Fowzan S.American Journal of Medical Genetics Part A, 2009, Vol.149A (4), p.662-665Hoboken: Wiley Subscription Services, Inc., A Wiley CompanyTexto completo disponível |