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Novel Homozygous Mutation of the Internal Translation Initiation Start Site of VHL is Exclusively Associated with Erythrocytosis: Indications for Distinct Functional Roles of von Hippel-Lindau Tumor Suppressor Isoforms.
Bartels M, van der Zalm MM, van Oirschot BA, Lee FS, Giles RH, Kruip MJ, Gitz-Francois JJ, Van Solinge WW, Bierings M, van Wijk R. Bartels M, et al. Hum Mutat. 2015 Nov;36(11):1039-42. doi: 10.1002/humu.22846. Epub 2015 Aug 17. Hum Mutat. 2015. PMID: 26224408
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Da Costa L, et al. Among authors: bartels m. Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Eur J Med Genet. 2018. PMID: 29081386 Free article. Review.
How I manage children with Diamond-Blackfan anaemia.
Bartels M, Bierings M. Bartels M, et al. Br J Haematol. 2019 Jan;184(2):123-133. doi: 10.1111/bjh.15701. Epub 2018 Dec 4. Br J Haematol. 2019. PMID: 30515771 Free PMC article. Review.
Rapid and reproducible characterization of sickling during automated deoxygenation in sickle cell disease patients.
Rab MAE, van Oirschot BA, Bos J, Merkx TH, van Wesel ACW, Abdulmalik O, Safo MK, Versluijs BA, Houwing ME, Cnossen MH, Riedl J, Schutgens REG, Pasterkamp G, Bartels M, van Beers EJ, van Wijk R. Rab MAE, et al. Among authors: bartels m. Am J Hematol. 2019 May;94(5):575-584. doi: 10.1002/ajh.25443. Epub 2019 Mar 8. Am J Hematol. 2019. PMID: 30784099 Free PMC article.
Red Blood Cells: Chasing Interactions.
Pretini V, Koenen MH, Kaestner L, Fens MHAM, Schiffelers RM, Bartels M, Van Wijk R. Pretini V, et al. Among authors: bartels m. Front Physiol. 2019 Jul 31;10:945. doi: 10.3389/fphys.2019.00945. eCollection 2019. Front Physiol. 2019. PMID: 31417415 Free PMC article. Review.
977 results