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Published in Cell reports (Cambridge) (28.06.2012)
Published in Cell reports (Cambridge) (28.06.2012)
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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
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Published in Brain (London, England : 1878) (01.11.2017)
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Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
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Published in Genome medicine (26.01.2017)
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Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements
van Heesch, Sebastiaan, Simonis, Marieke, van Roosmalen, Markus J., Pillalamarri, Vamsee, Brand, Harrison, Kuijk, Ewart W., de Luca, Kim L., Lansu, Nico, Braat, A. Koen, Menelaou, Androniki, Hao, Wensi, Korving, Jeroen, Snijder, Simone, van der Veken, Lars T., Hochstenbach, Ron, Knegt, Alida C., Duran, Karen, Renkens, Ivo, Alekozai, Najla, Jager, Myrthe, Vergult, Sarah, Menten, Björn, de Bruijn, Ewart, Boymans, Sander, Ippel, Elly, van Binsbergen, Ellen, Talkowski, Michael E., Lichtenbelt, Klaske, Cuppen, Edwin, Kloosterman, Wigard P.
Published in Cell reports (Cambridge) (24.12.2014)
Published in Cell reports (Cambridge) (24.12.2014)
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Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
VERBEEK, Dineke S, SCHELHAAS, Jurgen H, IPPEL, Elly F, BEEMER, Frits A, PEARSON, Peter L, SINKE, Richard J
Published in Human genetics (01.10.2002)
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Complete FXN deletion in a patient with Friedreich's ataxia
van den Ouweland, Ans M W, van Minkelen, Rick, Bolman, Galhana M, Wouters, Cokkie H, Becht-Noordermeer, Cindy, Deelen, Wout H, Deelen-Manders, J Marianne C, Ippel, Elly P F, Saris, Jasper, Halley, Dicky J J
Published in Genetic testing and molecular biomarkers (01.09.2012)
Published in Genetic testing and molecular biomarkers (01.09.2012)
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Cognitive impairment in SCA-19
Schelhaas, H Jurgen, van de Warrenburg, Bart P C, Hageman, Gerard, Ippel, Elly E, van Hout, Monique, Kremer, Berry
Published in Acta neurologica Belgica (01.12.2003)
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Published in Acta neurologica Belgica (01.12.2003)
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Two cases of autosomal recessive generalized dystonia in childhood: 5 year follow-up and bilateral globus pallidus stimulation results
Lenders, Mathieu W., Vergouwen, Mervyn D., Hageman, Gerard, van der Hoek, Joffrey A., Ippel, Elly F., Jansen Steur, Ernst N., Buschman, Hendrik P., Hariz, Marwan
Published in European journal of paediatric neurology (2006)
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Clinical and genetic analyses of a Dutch cohort of 40 patients with a nephronophthisis-related ciliopathy
Stokman, Marijn F., van der Zwaag, Bert, van de Kar, Nicole C. A. J., van Haelst, Mieke M., van Eerde, Albertien M., van der Heijden, Joost W., Kroes, Hester Y., Ippel, Elly, Schulp, Annelien J. A., van Gassen, Koen L., van Rooij, Iris A. L. M., Giles, Rachel H., Beales, Philip L., Roepman, Ronald, Arts, Heleen H., Bongers, Ernie M. H. F., Renkema, Kirsten Y., Knoers, Nine V. A. M., van Reeuwijk, Jeroen, Lilien, Marc R.
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Effect of vaccinations on seizure risk and disease course in Dravet syndrome
Verbeek, Nienke E, van der Maas, Nicoline A T, Sonsma, Anja C M, Ippel, Elly, Vermeer-de Bondt, Patricia E, Hagebeuk, Eveline, Jansen, Floor E, Geesink, Huibert H, Braun, Kees P, de Louw, Anton, Augustijn, Paul B, Neuteboom, Rinze F, Schieving, Jolanda H, Stroink, Hans, Vermeulen, R Jeroen, Nicolai, Joost, Brouwer, Oebele F, van Kempen, Marjan, de Kovel, Carolien G F, Kemmeren, Jeanet M, Koeleman, Bobby P C, Knoers, Nine V, Lindhout, Dick, Gunning, W Boudewijn, Brilstra, Eva H
Published in Neurology (18.08.2015)
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Genetic heterogeneity of hereditary motor and sensory neuropathy type VI
Ippel, E F, Wittebol-Post, D, Jennekens, F G, Bijlsma, J B
Published in Journal of child neurology (01.11.1995)
Published in Journal of child neurology (01.11.1995)
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Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6: A Study of 24 Dutch Families
Sinke, Richard J, Ippel, Elly F, Diepstraten, Conny M, Beemer, Frits A, Wokke, John H. J, van Hilten, Bob J, Knoers, Nine V. A. M, van Amstel, Hans Kristian Ploos, Kremer, H. P. H
Published in Archives of neurology (Chicago) (01.11.2001)
Published in Archives of neurology (Chicago) (01.11.2001)
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Physical mapping of the holoprosencephaly critical region in 21q22.3, exclusion of SIM2 as a candidate gene for holoprosencephaly, and mapping of SIM2 to a region of chromosome 21 important for Down syndrome
MUENKE, M, BONE, L. J, TESSIER-LAVIGNE, M, PATTERSON, D, MITCHELL, H. F, HART, I, WALTON, K, HALL-JOHNSON, K, IPPEL, E. F, DIETZ-BAND, J, KVALØY, K, CHEN-MING FAN
Published in American journal of human genetics (01.11.1995)
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Published in American journal of human genetics (01.11.1995)
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Genotype-phenotype correlation in adult-onset acid maltase deficiency
Wokke, J H, Ausems, M G, van den Boogaard, M J, Ippel, E F, van Diggelene, O, Kroos, M A, Boer, M, Jennekens, F G, Reuser, A J, Ploos van Amstel, H K
Published in Annals of neurology (01.09.1995)
Published in Annals of neurology (01.09.1995)
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Clinical and molecular correlations in spinocerebellar ataxia type 6: A study of 24 Dutch families: Neurogenetics/Neurogenomics 2001
SINKE, Richard J, IPPEL, Elly F, DIEPSTRATEN, Conny M, BEEMER, Frits A, WOKKE, John H. J, VAN HILTEN, Bob J, KNOERS, Nine V. A. M, PLOOS VAN AMSTEL, Hans Kristian, KREMER, H. P. H
Published in Archives of neurology (Chicago) (2001)
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Published in Archives of neurology (Chicago) (2001)
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