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Reply to Bouva et al. Comment on "Dijkstra et al. A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone. Int. J. Neonatal Screen. 2023, 9, 66".
Int J Neonatal Screen. 2024 Sep 24;10(4):66. doi: 10.3390/ijns10040066.
Int J Neonatal Screen. 2024.
PMID: 39449354
Free PMC article.
A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.
Dijkstra AM, Evers-van Vliet K, Heiner-Fokkema MR, Bodewes FAJA, Bos DK, Zsiros J, van Aerde KJ, Koop K, van Spronsen FJ, Lubout CMA.
Dijkstra AM, et al. Among authors: bos dk.
Int J Neonatal Screen. 2023 Dec 4;9(4):66. doi: 10.3390/ijns9040066.
Int J Neonatal Screen. 2023.
PMID: 38132825
Free PMC article.
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AXIN2-related oligodontia-colorectal cancer syndrome with cleft palate as a possible new feature.
Roht L, Hyldebrandt HK, Stormorken AT, Nordgarden H, Sijmons RH, Bos DK, Riegert-Johnson D, Mantia-Macklin S, Ilves P, Muru K, Wojcik MH, Kahre T, Õunap K.
Roht L, et al. Among authors: bos dk.
Mol Genet Genomic Med. 2023 Jun;11(6):e2157. doi: 10.1002/mgg3.2157. Epub 2023 Mar 1.
Mol Genet Genomic Med. 2023.
PMID: 36860143
Free PMC article.
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Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Imafidon ME, Sikkema-Raddatz B, Abbott KM, Meems-Veldhuis MT, Swertz MA, van der Velde KJ, Beunders G, Bos DK, Knoers NVAM, Kerstjens-Frederikse WS, van Diemen CC.
Imafidon ME, et al. Among authors: bos dk.
Front Pediatr. 2021 May 31;9:600556. doi: 10.3389/fped.2021.600556. eCollection 2021.
Front Pediatr. 2021.
PMID: 34136434
Free PMC article.
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