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Go to position: 6. Title: Diagnostic yield of whole‐exome sequencing in non‐syndromic intellectual disability. Authors: Taşkıran, E. Z.Karaosmanoğlu, B.Koşukcu, C.Ürel‐Demir, G.Akgün‐Doğan, Ö.Şimşek‐Kiper, P. Ö.Alikaşifoğlu, M.Boduroğlu, K.Utine, G. E. Show more Subject Terms: CHROMOSOME analysisSEQUENCE analysisEPILEPSYNERVOUS systemGENETIC testingMICROARRAY technologyBEHAVIOR disordersMOLECULAR biologyGENE expressionAUTISMDESCRIPTIVE statisticsPEOPLE with intellectual disabilitiesCONSANGUINITYSOCIAL disabilitiesPHENOTYPESLONGITUDINAL method Source: Journal of Intellectual Disability Research; Jun2021, Vol. 65 Issue 6, p577-588, 12p, 2 Charts Academic Journal in the bookshelf Full Text  Link opens in a new windowDetails
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Go to position: 14. Title: Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis Authors: Olcay, L.Gümrük, F.Boduroğlu, K.Coşkun, T.Tunçbilek, E. Show more Source: Journal of Inherited Metabolic Disease: Official Journal of the Society for the Study of Inborn Errors of Metabolism. August 1998 21(6):679-680 Academic Journal in the bookshelf Details
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Go to position: 17. Title: P.58 - Arthrogryposis multiplex congenita (AMC): Spectrum and classification at a tertiary referral center Authors: Oncel, I.Haliloglu, G.Utine, E.Aksoy, C.Boduroglu, K.Topaloglu, H. Show more Source: In Neuromuscular Disorders October 2016 26 Supplement 2:S107-S107 Academic Journal in the bookshelf Details
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