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MR spectroscopy and serial magnetic resonance imaging in a patient with mitochondrial cystic leukoencephalopathy due to complex I deficiency and NDUFV1 mutations and mild clinical course.
Zafeiriou DI, Rodenburg RJ, Scheffer H, van den Heuvel LP, Pouwels PJ, Ververi A, Athanasiadou-Piperopoulou F, van der Knaap MS. Zafeiriou DI, et al. Among authors: scheffer h. Neuropediatrics. 2008 Jun;39(3):172-5. doi: 10.1055/s-0028-1093336. Epub 2008 Nov 7. Neuropediatrics. 2008. PMID: 18991197
Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.
de Bot ST, Burggraaff RC, Herkert JC, Schelhaas HJ, Post B, Diekstra A, van Vliet RO, van der Knaap MS, Kamsteeg EJ, Scheffer H, van de Warrenburg BP, Verschuuren-Bemelmans CC, Kremer HP. de Bot ST, et al. Among authors: scheffer h. Eur J Hum Genet. 2013 Nov;21(11):1312-5. doi: 10.1038/ejhg.2013.27. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443022 Free PMC article.
Autosomal recessive inheritance of GLUT1 deficiency syndrome.
Klepper J, Scheffer H, Elsaid MF, Kamsteeg EJ, Leferink M, Ben-Omran T. Klepper J, et al. Among authors: scheffer h. Neuropediatrics. 2009 Oct;40(5):207-10. doi: 10.1055/s-0030-1248264. Epub 2010 Mar 10. Neuropediatrics. 2009. PMID: 20221955
Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R, Del Rosario M, Vissers LELM, Kwint MP, Janssen IM, de Leeuw N, Yntema HG, Nelen MR, Lugtenberg D, Kamsteeg EJ, Wieskamp N, Stegmann APA, Stevens SJC, Rodenburg RJT, Simons A, Mensenkamp AR, Rinne T, Gilissen C, Scheffer H, Veltman JA Prof Dr, Hehir-Kwa JY. Pfundt R, et al. Among authors: scheffer h. Genet Med. 2017 Jun;19(6):667-675. doi: 10.1038/gim.2016.163. Epub 2016 Oct 27. Genet Med. 2017. PMID: 28574513 Free PMC article.
A post-hoc comparison of the utility of sanger sequencing and exome sequencing for the diagnosis of heterogeneous diseases.
Neveling K, Feenstra I, Gilissen C, Hoefsloot LH, Kamsteeg EJ, Mensenkamp AR, Rodenburg RJ, Yntema HG, Spruijt L, Vermeer S, Rinne T, van Gassen KL, Bodmer D, Lugtenberg D, de Reuver R, Buijsman W, Derks RC, Wieskamp N, van den Heuvel B, Ligtenberg MJ, Kremer H, Koolen DA, van de Warrenburg BP, Cremers FP, Marcelis CL, Smeitink JA, Wortmann SB, van Zelst-Stams WA, Veltman JA, Brunner HG, Scheffer H, Nelen MR. Neveling K, et al. Among authors: scheffer h. Hum Mutat. 2013 Dec;34(12):1721-6. doi: 10.1002/humu.22450. Epub 2013 Oct 18. Hum Mutat. 2013. PMID: 24123792
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency.
Contopoulos-Ioannidis D, Evangeliou A, ter Laak H, de Vries B, Pfundt R, Scheffer H, Smeitink J, Tzoufi M, Makis A, Marinos E, Hess R, Adams D, Huizing M, Morava E. Contopoulos-Ioannidis D, et al. Among authors: scheffer h. Am J Med Genet A. 2008 Dec 1;146A(23):3100-3. doi: 10.1002/ajmg.a.32569. Am J Med Genet A. 2008. PMID: 19006216 Free PMC article. No abstract available.
315 results