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Microdeletion in distal 17p13.1: A recognizable phenotype with microcephaly, distinctive facial features, and intellectual disability

✍ Scribed by Susan Zeesman; Susanne Kjaergaard; Hanne D. Hove; Maria Kirchhoff; Jadd M. Stevens; Małgorzata J.M. Nowaczyk

No coin nor oath required. For personal study only.

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17p13.1 microduplication in a boy with S

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A de novo 1.13 Mb microdeletion in 12q13

✍ Dagur Ingi Jonsson; Petur Ludvigsson; Swaroop Aradhya; Sunna Sigurdardottir; Mar 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 611 KB

790 Kb microduplication in chromosome ba

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Microdeletions of 5.5 Mb (4q13.2-q13.3)

✍ Shimada, Shino; Okamoto, Nobuhiko; Nomura, Shohei; Fukui, Miho; Shimakawa, Shuic 📂 Article 📅 2013 🏛 John Wiley and Sons 🌐 English ⚖ 387 KB