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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1988 1
1989 1
1990 4
1991 1
1997 1
1998 1
2003 1
2004 1
2005 1
2006 1
2008 1
2009 2
2010 1
2011 3
2012 7
2013 3
2014 5
2015 7
2016 5
2017 4
2018 2
2019 5
2020 3
2021 3
2022 4
2023 2

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58 results

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Page 1
Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex.
Hoogeveen-Westerveld M, Wentink M, van den Heuvel D, Mozaffari M, Ekong R, Povey S, den Dunnen JT, Metcalfe K, Vallee S, Krueger S, Bergoffen J, Shashi V, Elmslie F, Kwiatkowski D, Sampson J, Vidales C, Dzarir J, Garcia-Planells J, Dies K, Maat-Kievit A, van den Ouweland A, Halley D, Nellist M. Hoogeveen-Westerveld M, et al. Hum Mutat. 2011 Apr;32(4):424-35. doi: 10.1002/humu.21451. Epub 2011 Mar 8. Hum Mutat. 2011. PMID: 21309039
The genotype-phenotype correlation in Pompe disease.
Kroos M, Hoogeveen-Westerveld M, van der Ploeg A, Reuser AJ. Kroos M, et al. Among authors: hoogeveen westerveld m. Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):59-68. doi: 10.1002/ajmg.c.31318. Epub 2012 Jan 17. Am J Med Genet C Semin Med Genet. 2012. PMID: 22253258 Review.
Response to Herbert et al.
de Vries JM, Kuperus E, Hoogeveen-Westerveld M, Kroos MA, Wens SCA, Stok M, van der Beek NAME, Kruijshaar ME, Rizopoulos D, van Doorn PA, van der Ploeg AT, Pijnappel WWMP. de Vries JM, et al. Among authors: hoogeveen westerveld m. Genet Med. 2017 Nov;19(11):1283-1284. doi: 10.1038/gim.2017.49. Epub 2017 Jun 29. Genet Med. 2017. PMID: 28661488 Free article. No abstract available.
Rheb is essential for murine development.
Goorden SM, Hoogeveen-Westerveld M, Cheng C, van Woerden GM, Mozaffari M, Post L, Duckers HJ, Nellist M, Elgersma Y. Goorden SM, et al. Among authors: hoogeveen westerveld m. Mol Cell Biol. 2011 Apr;31(8):1672-8. doi: 10.1128/MCB.00985-10. Epub 2011 Feb 14. Mol Cell Biol. 2011. PMID: 21321084 Free PMC article.
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY, In't Groen SLM, de Faria DOS, Hoogeveen-Westerveld M, van den Hout HJMP, van der Ploeg AT, Bergsma AJ, Pijnappel WWMP. Niño MY, et al. Among authors: hoogeveen westerveld m. Hum Mutat. 2021 Nov;42(11):1461-1472. doi: 10.1002/humu.24272. Epub 2021 Sep 8. Hum Mutat. 2021. PMID: 34405923 Free PMC article.
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY, Wijgerde M, de Faria DOS, Hoogeveen-Westerveld M, Bergsma AJ, Broeders M, van der Beek NAME, van den Hout HJM, van der Ploeg AT, Verheijen FW, Pijnappel WWMP. Niño MY, et al. Among authors: hoogeveen westerveld m. Eur J Hum Genet. 2021 Mar;29(3):434-446. doi: 10.1038/s41431-020-00752-2. Epub 2020 Nov 8. Eur J Hum Genet. 2021. PMID: 33162552 Free PMC article.
Identification of regions critical for the integrity of the TSC1-TSC2-TBC1D7 complex.
Santiago Lima AJ, Hoogeveen-Westerveld M, Nakashima A, Maat-Kievit A, van den Ouweland A, Halley D, Kikkawa U, Nellist M. Santiago Lima AJ, et al. Among authors: hoogeveen westerveld m. PLoS One. 2014 Apr 8;9(4):e93940. doi: 10.1371/journal.pone.0093940. eCollection 2014. PLoS One. 2014. PMID: 24714658 Free PMC article.
Effects of immunomodulation in classic infantile Pompe patients with high antibody titers.
Poelman E, Hoogeveen-Westerveld M, van den Hout JMP, Bredius RGM, Lankester AC, Driessen GJA, Kamphuis SSM, Pijnappel WWM, van der Ploeg AT. Poelman E, et al. Among authors: hoogeveen westerveld m. Orphanet J Rare Dis. 2019 Mar 22;14(1):71. doi: 10.1186/s13023-019-1039-z. Orphanet J Rare Dis. 2019. PMID: 30902109 Free PMC article.
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease.
van Kooten HA, Ditters IAM, Hoogeveen-Westerveld M, Jacobs EH, van den Hout JMP, van Doorn PA, Pijnappel WWMP, van der Ploeg AT, van der Beek NAME. van Kooten HA, et al. Among authors: hoogeveen westerveld m. Orphanet J Rare Dis. 2022 Feb 2;17(1):31. doi: 10.1186/s13023-022-02175-2. Orphanet J Rare Dis. 2022. PMID: 35109913 Free PMC article.
58 results