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Page 1
Univerricht-Lundborg disease: underdiagnosed in the Netherlands.
de Haan GJ, Halley DJ, Doelman JC, Geesink HH, Augustijn PB, Jager-Jongkind AD, Majoie M, Bader AJ, Leliefeld-Ten Doeschate LA, Deelen WH, Bertram E, Lehesjoki AE, Lindhout D. de Haan GJ, et al. Among authors: halley dj. Epilepsia. 2004 Sep;45(9):1061-3. doi: 10.1111/j.0013-9580.2004.43703.x. Epilepsia. 2004. PMID: 15329070 Free article.
No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.
Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Bianchi A, Zara F, Bulteau C, Kaminska A, Ville D, Cieuta C, Prud'homme JF, Dulac O, Bate L, Gardiner RM, de Haan GJ, Janssen GA, Witte J, Halley DJ, Lindhout D, Wienker TF, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy. Sander T, et al. Among authors: halley dj. Am J Med Genet. 2002 Aug 8;114(6):673-8. doi: 10.1002/ajmg.10645. Am J Med Genet. 2002. PMID: 12210286
Complete FXN deletion in a patient with Friedreich's ataxia.
van den Ouweland AM, van Minkelen R, Bolman GM, Wouters CH, Becht-Noordermeer C, Deelen WH, Deelen-Manders JM, Ippel EP, Saris J, Halley DJ. van den Ouweland AM, et al. Among authors: halley dj. Genet Test Mol Biomarkers. 2012 Sep;16(9):1015-8. doi: 10.1089/gtmb.2012.0012. Epub 2012 Jun 12. Genet Test Mol Biomarkers. 2012. PMID: 22691228
Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations.
Valstar MJ, Bertoli-Avella AM, Wessels MW, Ruijter GJ, de Graaf B, Olmer R, Elfferich P, Neijs S, Kariminejad R, Suheyl Ezgü F, Tokatli A, Czartoryska B, Bosschaart AN, van den Bos-Terpstra F, Puissant H, Bürger F, Omran H, Eckert D, Filocamo M, Simeonov E, Willems PJ, Wevers RA, Niermeijer MF, Halley DJ, Poorthuis BJ, van Diggelen OP. Valstar MJ, et al. Among authors: halley dj. Hum Mutat. 2010 May;31(5):E1348-60. doi: 10.1002/humu.21234. Hum Mutat. 2010. PMID: 20232353
Characterisation of TSC1 promoter deletions in tuberous sclerosis complex patients.
van den Ouweland AM, Elfferich P, Zonnenberg BA, Arts WF, Kleefstra T, Nellist MD, Millan JM, Withagen-Hermans C, Maat-Kievit AJ, Halley DJ. van den Ouweland AM, et al. Among authors: halley dj. Eur J Hum Genet. 2011 Feb;19(2):157-63. doi: 10.1038/ejhg.2010.156. Epub 2010 Sep 29. Eur J Hum Genet. 2011. PMID: 20877415 Free PMC article.
Phosphorylation and binding partner analysis of the TSC1-TSC2 complex.
Nellist M, Burgers PC, van den Ouweland AM, Halley DJ, Luider TM. Nellist M, et al. Among authors: halley dj. Biochem Biophys Res Commun. 2005 Aug 5;333(3):818-26. doi: 10.1016/j.bbrc.2005.05.175. Biochem Biophys Res Commun. 2005. PMID: 15963462
155 results