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Orthopaedic Aspects of SAMS Syndrome.
Schrander DE, Staal HM, Johnson CA, Calder A, Ghali N, Chudley AE, Stumpel CTRM. Schrander DE, et al. J Pediatr Genet. 2020 Jul 29;11(1):51-58. doi: 10.1055/s-0040-1714700. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186391 Free PMC article.
Molecular characterization of an embryonal rhabdomyosarcoma occurring in a patient with Kabuki syndrome: report and literature review in the light of tumor predisposition syndromes.
Aukema SM, Glaser S, van den Hout MFCM, Dahlum S, Blok MJ, Hillmer M, Kolarova J, Sciot R, Schott DA, Siebert R, Stumpel CTRM. Aukema SM, et al. Fam Cancer. 2023 Jan;22(1):103-118. doi: 10.1007/s10689-022-00306-z. Epub 2022 Jul 19. Fam Cancer. 2023. PMID: 35856126 Free PMC article. Review.
The 6p25 deletion syndrome: An update on a rare neurocristopathy.
de Vos IJ, Stegmann AP, Webers CA, Stumpel CT. de Vos IJ, et al. Among authors: stumpel ct. Ophthalmic Genet. 2017 Mar-Apr;38(2):101-107. doi: 10.3109/13816810.2016.1164191. Epub 2016 Apr 12. Ophthalmic Genet. 2017. PMID: 27070436 Review.
Body proportions in children with Kabuki syndrome.
Penders B, Schott N, Gerver WJ, Stumpel CT. Penders B, et al. Among authors: stumpel ct. Am J Med Genet A. 2016 Mar;170(3):610-4. doi: 10.1002/ajmg.a.37467. Epub 2015 Nov 9. Am J Med Genet A. 2016. PMID: 26553706
TSC2 c.1864C>T variant associated with mild cases of tuberous sclerosis complex.
Farach LS, Gibson WT, Sparagana SP, Nellist M, Stumpel CT, Hietala M, Friedman E, Pearson DA, Creighton SP, Wagemans A, Segel R, Ben-Shalom E, Au KS, Northrup H. Farach LS, et al. Among authors: stumpel ct. Am J Med Genet A. 2017 Mar;173(3):771-775. doi: 10.1002/ajmg.a.38083. Am J Med Genet A. 2017. PMID: 28211972 Review.
71 results