A Mutation in the Fibroblast Growth Factor 14 Gene Is Associated with Autosomal Dominant Cerebral Ataxia
van Swieten, John C., Brusse, Esther, de Graaf, Bianca M., Krieger, Elmar, van de Graaf, Raoul, de Koning, Inge, Maat-Kievit, Anneke, Leegwater, Peter, Dooijes, Dennis, Oostra, Ben A., Heutink, Peter
Published in American journal of human genetics (01.01.2003)
Published in American journal of human genetics (01.01.2003)
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Identification of a large rearrangement in CYLD as a cause of familial cylindromatosis
van den Ouweland, Ans M. W., Elfferich, Peter, Lamping, Roy, van de Graaf, Raoul, van Veghel-Plandsoen, Monique M., Franken, S. M., Houweling, A. C.
Published in Familial cancer (01.03.2011)
Published in Familial cancer (01.03.2011)
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Low grade mosaic for a complex supernumerary ring chromosome 18 in an adult patient with multiple congenital anomalies
van der Veken, Lars T, Dieleman, Marianne Mj, Douben, Hannie, van de Brug, Judith C, van de Graaf, Raoul, Hoogeboom, A Jeannette M, Poddighe, Pino J, de Klein, Annelies
Published in Molecular cytogenetics (09.07.2010)
Published in Molecular cytogenetics (09.07.2010)
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Complete APTX deletion in a patient with ataxia with oculomotor apraxia type 1
van Minkelen, Rick, Guitart, Miriam, Escofet, Conxita, Yoon, Grace, Elfferich, Peter, Bolman, Galhana M, van der Helm, Robert, van de Graaf, Raoul, van den Ouweland, Ans M W
Published in BMC medical genetics (19.08.2015)
Published in BMC medical genetics (19.08.2015)
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Variable phenotypic expression and extensive tau pathology in two families with the novel tau mutation L315R
Van Herpen, Esther, Rosso, Sonia M., Serverijnen, Lies-Anne, Yoshida, Hirotaka, Breedveld, Guido, Van De Graaf, Raoul, Kamphorst, Wouter, Ravid, Rivka, Willemsen, Rob, Dooijes, Dennis, Majoor-Krakauer, Daniëlle, Kros, Johan M., Crowther, R. Anthony, Goedert, Michel, Heutink, Peter, Van Swieten, John C.
Published in Annals of neurology (01.11.2003)
Published in Annals of neurology (01.11.2003)
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An incomplete trisomy 3 rescue resulting in a marker chromosome and UPD(3)-difficulties in interpretation
Srebniak, Malgorzata, Noomen, Petra, dos Santos, Pedro, Halley, Dicky, van de Graaf, Raoul, Govaerts, Lutgarde, Wouters, Cokkie, Galjaard, Robert-Jan, Van Opstal, Diane
Published in Prenatal diagnosis (01.10.2008)
Published in Prenatal diagnosis (01.10.2008)
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A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]
van Swieten, John C, Brusse, Esther, de Graaf, Bianca M, Krieger, Elmar, van de Graaf, Raoul, de Koning, Inge, Maat-Kievit, Anneke, Leegwater, Peter, Dooijes, Dennis, Oostra, Ben A, Heutink, Peter
Published in American journal of human genetics (01.01.2003)
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Published in American journal of human genetics (01.01.2003)
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Cortical Brain Malformations
Wit, Marie Claire Yvette de, Lequin, Maarten H, Coo, Ireneaus F M de, Brusse, Esther, Halley, Dicky J J, Graaf, Raoul van de, Schot, Rachel, Verheijen, Frans W, Mancini, Grazia M S
Published in Archives of neurology (Chicago) (01.03.2008)
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Published in Archives of neurology (Chicago) (01.03.2008)
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Cortical Brain Malformations: Effect of Clinical, Neuroradiological, and Modern Genetic Classification
de Wit, Marie Claire Yvette, Lequin, Maarten H, de Coo, Ireneaus F. M, Brusse, Esther, Halley, Dicky J. J, van de Graaf, Raoul, Schot, Rachel, Verheijen, Frans W, Mancini, Grazia M. S
Published in Archives of neurology (Chicago) (01.03.2008)
Published in Archives of neurology (Chicago) (01.03.2008)
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Cortical Brain Malformations : Effect of Clinical, Neuroradiological, and Modern Genetic Classification: Neuromics 2008. Part I
DE WIT, Marie Claire Yvette, LEQUIN, Maarten H, DE COO, Ireneaus F. M, BRUSSE, Esther, HALLEY, Dicky J. J, VAN DE GRAAF, Raoul, SCHOT, Rachel, VERHEIJE, Frans W, MANCINI, Grazia M. S
Published in Archives of neurology (Chicago) (2008)
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Published in Archives of neurology (Chicago) (2008)
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