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Page 1
[Small fibre neuropathy: knowledge is power].
Hoeijmakers JG, Bakkers M, Blom EW, Drenth JP, Merkies IS, Faber CG. Hoeijmakers JG, et al. Among authors: blom ew. Ned Tijdschr Geneeskd. 2012;156(7):A4224. Ned Tijdschr Geneeskd. 2012. PMID: 22333400 Review. Dutch.
Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence.
Tan-Sindhunata MB, Mathijssen IB, Smit M, Baas F, de Vries JI, van der Voorn JP, Kluijt I, Hagen MA, Blom EW, Sistermans E, Meijers-Heijboer H, Waisfisz Q, Weiss MM, Groffen AJ. Tan-Sindhunata MB, et al. Among authors: blom ew. Eur J Hum Genet. 2015 Sep;23(9):1151-7. doi: 10.1038/ejhg.2014.273. Epub 2014 Dec 24. Eur J Hum Genet. 2015. PMID: 25537362 Free PMC article.
Performance of BRCA1/2 mutation prediction models in male breast cancer patients.
Moghadasi S, Grundeken V, Janssen LAM, Dijkstra NH, Rodríguez-Girondo M, van Zelst-Stams WAG, Oosterwijk JC, Ausems MGEM, Oldenburg RA, Adank MA, Blom EW, Ruijs MWG, van Os TAM, van Deurzen CHM, Martens JWM, Schroder CP, Wijnen JT, Vreeswijk MPG, van Asperen CJ. Moghadasi S, et al. Among authors: blom ew. Clin Genet. 2018 Jan;93(1):52-59. doi: 10.1111/cge.13065. Epub 2017 Sep 25. Clin Genet. 2018. PMID: 28589637
Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT, Thor MG, Oates EC, van Karnebeek C, Hendson G, Blom E, Witting N, Rasmussen M, Gabbett MT, Ravenscroft G, Sframeli M, Suetterlin K, Sarkozy A, D'Argenzio L, Hartley L, Matthews E, Pitt M, Vissing J, Ballegaard M, Krarup C, Slørdahl A, Halvorsen H, Ye XC, Zhang LH, Løkken N, Werlauff U, Abdelsayed M, Davis MR, Feng L, Phadke R, Sewry CA, Morgan JE, Laing NG, Vallance H, Ruben P, Hanna MG, Lewis S, Kamsteeg EJ, Männikkö R, Muntoni F. Zaharieva IT, et al. Brain. 2016 Mar;139(Pt 3):674-91. doi: 10.1093/brain/awv352. Epub 2015 Dec 22. Brain. 2016. PMID: 26700687 Free PMC article.
Deletion and point mutations of PTHLH cause brachydactyly type E.
Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Krüger G, Hiort O, Seemann P, Mundlos S. Klopocki E, et al. Am J Hum Genet. 2010 Mar 12;86(3):434-9. doi: 10.1016/j.ajhg.2010.01.023. Epub 2010 Feb 18. Am J Hum Genet. 2010. PMID: 20170896 Free PMC article.
Impact of device variability and protocol differences on kidney function during normothermic machine perfusion: A comparative study using porcine and human kidneys.
Lantinga VA, Arykbaeva AS, Spraakman NA, Blom EWP, Huijink TM, de Vries DK, Ploeg RJ, Alwayn IPJ, Leuvenink HGD, Moers C, van Leeuwen LL. Lantinga VA, et al. Among authors: blom ewp. Artif Organs. 2024 Aug 28. doi: 10.1111/aor.14851. Online ahead of print. Artif Organs. 2024. PMID: 39193869