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FAM20B Related Skeletal Dysplasia: Expanding the Prenatal Phenotype
Arduç, A., Zuurbier, L. C., van Maarle, M. C., Lauffer, P., Verbeke, J. I. M. L., Bax, C. J., van Tuyl, M., Hochstenbach, R. & Pajkrt, E., 2025, (E-pub ahead of print) In: Clinical Genetics.Research output: Contribution to journal › Article › Academic › peer-review
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Leukoencephalopathy with calcifications, developmental brain abnormalities and skeletal dysplasia due to homozygosity for a hypomorphic CSF1R variant: A report of three siblings
Beerepoot, S., Verbeke, J. I. M. L., Plantinga, M., Nierkens, S., Pouwels, P. J. W., Wolf, N. I., Simons, C. & van der Knaap, M. S., Nov 2024, In: American Journal of Medical Genetics. Part A. 194, 11, p. e63800 e63800.Research output: Contribution to journal › Article › Academic › peer-review
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Comparison of Commercial AI Software Performance for Radiograph Lung Nodule Detection and Bone Age Prediction
Project AIR Working Group, 1 Jan 2024, In: Radiology. 310, 1, p. e230981 e230981.Research output: Contribution to journal › Article › Academic › peer-review
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