Search Results - "Alsinani, Aisha"

Study of autosomal recessive osteogenesis imperfecta in Arabia reveals a novel locus defined by TMEM38B mutation by Shaheen, Ranad, Alazami, Anas M, Alshammari, Muneera J, Faqeih, Eissa, Alhashmi, Nadia, Mousa, Noon, Alsinani, Aisha, Ansari, Shinu, Alzahrani, Fatema, Al-Owain, Mohammed, Alzayed, Zayed S, Alkuraya, Fowzan S

“…Osteogenesis imperfecta (OI) is an hereditary bone disease in which increased bone fragility leads to frequent fractures and other complications, usually in an…”
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Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated by Johnson, Matthew B, De Franco, Elisa, Greeley, Siri Atma W, Letourneau, Lisa R, Gillespie, Kathleen M, Wakeling, Matthew N, Ellard, Sian, Flanagan, Sarah E, Patel, Kashyap A, Hattersley, Andrew T

“…Identifying new causes of permanent neonatal diabetes (PNDM) (diagnosis <6 months) provides important insights into β-cell biology. Patients with Down syndrome…”
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