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All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year AND OR AND NOT All fields Title Creator / Publisher Keyword Year Sort by creator [A → Z]' creator [Z → A]' publishing year ↑ (asc)' publishing year ↓ (desc)' title [A → Z]' title [Z → A]' Simple Search Hits 1 – 3 of 3 1 Early development of infants with neurofibromatosis type 1: A case series Kolesnik, Anna May; Jones, Emily Jane Harrison*; Garg, Shruti. - 2017 BASE Show details 2 Integrating population variation and protein structural analysis to improve clinical interpretation of missense variation: application to the WD40 domain Laskowski, Roman A.; Tyagi, Nidhi; Johnson, Diana. - : Oxford University Press, 2016 BASE Show details 3 The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant Koolen, David A; Pfundt, Rolph; Linda, Katrin. - : Nature Publishing Group, 2016 BASE Show details

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