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Nosology of genetic skeletal disorders: 2023 revision.
Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman ML, Superti-Furga A. Unger S, et al. Among authors: calder a. Am J Med Genet A. 2023 May;191(5):1164-1209. doi: 10.1002/ajmg.a.63132. Epub 2023 Feb 13. Am J Med Genet A. 2023. PMID: 36779427 Free PMC article.
Conclusion of diagnostic odysseys due to inversions disrupting GLI3 and FBN1.
Pagnamenta AT, Yu J, Evans J, Twiss P; Genomics England Research Consortium; Musculoskeletal GeCIP MDT; Offiah AC, Wafik M, Mehta SG, Javaid MK, Smithson SF, Taylor JC. Pagnamenta AT, et al. J Med Genet. 2023 May;60(5):505-510. doi: 10.1136/jmg-2022-108753. Epub 2022 Nov 21. J Med Genet. 2023. PMID: 36411030 Free PMC article.
Recommendations for neuroradiological examinations in children living with achondroplasia: a European Society of Pediatric Radiology and European Society of Neuroradiology opinion paper.
Wright J, Cheung M, Siddiqui A, Lucas J, Calder A, Argyropoulou MI, Arthurs OJ, Caro-Dominguez P, Thompson D, Severino M, D'Arco F; members of the ESPR Neuroradiology Taskforce; members of the ESNR Pediatric Subcommittee. Wright J, et al. Among authors: calder a. Pediatr Radiol. 2023 Nov;53(12):2323-2344. doi: 10.1007/s00247-023-05728-0. Epub 2023 Sep 6. Pediatr Radiol. 2023. PMID: 37674051 Review.
Lung infections in immunocompromised children.
Calder AD, Perucca G, Johnson SM, Pandey AR, Moshal K, Kusters MA. Calder AD, et al. Pediatr Radiol. 2024 Apr;54(4):530-547. doi: 10.1007/s00247-023-05735-1. Epub 2023 Aug 17. Pediatr Radiol. 2024. PMID: 37589764 Review.
538 results