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Deeplasia: deep learning for bone age assessment validated on skeletal dysplasias.
Rassmann S, Keller A, Skaf K, Hustinx A, Gausche R, Ibarra-Arrelano MA, Hsieh TC, Madajieu YED, Nöthen MM, Pfäffle R, Attenberger UI, Born M, Mohnike K, Krawitz PM, Javanmardi B. Rassmann S, et al. Pediatr Radiol. 2024 Jan;54(1):82-95. doi: 10.1007/s00247-023-05789-1. Epub 2023 Nov 13. Pediatr Radiol. 2024. PMID: 37953411 Free PMC article.
Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile.
Rots D, Rooney K, Relator R, Kerkhof J, McConkey H, Pfundt R, Marcelis C, Willemsen MH, van Hagen JM, Zwijnenburg P, Alders M, Õunap K, Reimand T, Fjodorova O, Berland S, Liahjell EB, Bojovic O, Kriek M, Ruivenkamp C, Bonati MT, Brunner HG, Vissers LELM, Sadikovic B, Kleefstra T. Rots D, et al. Clin Genet. 2024 Jun;105(6):655-660. doi: 10.1111/cge.14498. Epub 2024 Feb 21. Clin Genet. 2024. PMID: 38384171