Arama Sonuçları - Fowzan S. Alkuraya

Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation in IKBKB Yazar: Zobaida Alsum, Mofareh S. AlZahrani, Hamoud Al-Mousa, Nouf Alkhamis, Abdulkareem A. Alsalemi, Hanan E. Shamseldin, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Fowzan S. Alkuraya, Abdullah A. Alangari

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Clinical exome sequencing by general pediatricians: high clinical utility and no evidence of inappropriate testing Yazar: Danya Salah Baz, Dareen Baz, Fawzah Alrwuili, Abdullah Aldowaish, Hanan E. Shamseldin, Ayman Elhomoudi, Fowzan S. Alkuraya

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Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutati... Yazar: Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD

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