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Search Results - Verbeek, Elly
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RTTN Mutations Link Primary Cilia Function to Organization of the Human Cerebral Cortex
by
Kheradmand Kia, Sima
,
Verbeek, Elly
,
Engelen, Erik
,
Schot, Rachel
,
Poot, Raymond A.
,
de Coo, Irenaeus F.M.
,
Lequin, Maarten H.
,
Poulton, Cathryn J.
,
Pourfarzad, Farzin
,
Grosveld, Frank G.
,
Brehm, António
,
de Wit, Marie Claire Y.
,
Oegema, Renske
,
Dobyns, William B.
,
Verheijen, Frans W.
,
Mancini, Grazia M.S.
Published in
American journal of human genetics
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Sialin, an anion transporter defective in sialic acid storage diseases, shows highly variable expression in adult mouse brain, and is developmentally regulated
by
Yarovaya, Natalia
,
Schot, Rachel
,
Fodero, Lisa
,
McMahon, Michelle
,
Mahoney, Alexis
,
Williams, Rachael
,
Verbeek, Elly
,
de Bondt, An
,
Hampson, Mark
,
van der Spek, Peter
,
Stubbs, Andrew
,
Masters, Colin L.
,
Verheijen, Frans W.
,
Mancini, Grazia M.S.
,
Venter, Deon J.
Published in
Neurobiology of disease
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COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage
by
de Vries, Linda S.
,
Koopman, Corine
,
Groenendaal, Floris
,
Van Schooneveld, Mary
,
Verheijen, Frans W.
,
Verbeek, Elly
,
Witkamp, Theo D.
,
van der Worp, H. Bart
,
Mancini, Grazia
Published in
Annals of neurology
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COL4A2 mutation associated with familial porencephaly and small-vessel disease
by
VERBEEK, Elly
,
MEUWISSEN, Marije E. C
,
HALLEY, Dicky J
,
DE COO, René I. F
,
DEN HOLLANDER, Jan C
,
OEGEMA, Renske
,
GOULD, Douglas B
,
MANCINI, Grazia M. S
,
VERHEIJEN, Frans W
,
GOVAERT, Paul P
,
LICHT, Daniel J
,
KUO, Debbie S
,
POULTON, Cathryn J
,
SCHOT, Rachel
,
LEQUIN, Maarten H
,
DUDINK, Jeroen
Published in
European journal of human genetics : EJHG
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Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice
by
Stroobants, Stijn
,
Van Acker, Nathalie G.G.
,
Verheijen, Frans W.
,
Goris, Ilse
,
Daneels, Guy F.T.
,
Schot, Rachel
,
Verbeek, Elly
,
Knaapen, Michiel W.M.
,
De Bondt, An
,
Göhlmann, Hinrich W.
,
Crauwels, Marion L.A.
,
Mancini, Grazia M.S.
,
Andries, Luc J.
,
Moechars, Dieder W.E.
,
D'Hooge, Rudi
Published in
Experimental neurology
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A mouse model for the cystic fibrosis delta F508 mutation
by
Doorninck, J. H.
,
French, P. J.
,
Verbeek, E.
,
Peters, R. H.
,
Morreau, H.
,
Bijman, J.
,
Scholte, B. J.
Published in
The EMBO journal
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A delta F508 mutation in mouse cystic fibrosis transmembrane conductance regulator results in a temperature-sensitive processing defect in vivo
by
French, P J
,
van Doorninck, J H
,
Peters, R H
,
Verbeek, E
,
Ameen, N A
,
Marino, C R
,
de Jonge, H R
,
Bijman, J
,
Scholte, B J
Published in
The Journal of clinical investigation
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Chloride transport in cultured nasal epithelium of cystic fibrosis patients
by
VERBEEK, E
,
DE JONGE, H. R
,
BIJMAN, J
,
KEULEMANS, J
,
SINAASAPPEL, M
,
VAN DER KAMP, A. W. M
,
SCHOLTE, B. J
Published in
Pflügers Archiv
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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia
by
Nibbeling, Esther A R
,
Duarri, Anna
,
Verschuuren-Bemelmans, Corien C
,
Fokkens, Michiel R
,
Karjalainen, Juha M
,
Smeets, Cleo J L M
,
de Boer-Bergsma, Jelkje J
,
van der Vries, Gerben
,
Dooijes, Dennis
,
Bampi, Giovana B
,
van Diemen, Cleo
,
Brunt, Ewout
,
Ippel, Elly
,
Kremer, Berry
,
Vlak, Monique
,
Adir, Noam
,
Wijmenga, Cisca
,
van de Warrenburg, Bart P C
,
Franke, Lude
,
Sinke, Richard J
,
Verbeek, Dineke S
Published in
Brain (London, England : 1878)
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Molecular dissection of germline chromothripsis in a developmental context using patient-derived iPS cells
by
Middelkamp, Sjors
,
van Heesch, Sebastiaan
,
Braat, A Koen
,
de Ligt, Joep
,
van Iterson, Maarten
,
Simonis, Marieke
,
van Roosmalen, Markus J
,
Kelder, Martijn J E
,
Kruisselbrink, Evelien
,
Hochstenbach, Ron
,
Verbeek, Nienke E
,
Ippel, Elly F
,
Adolfs, Youri
,
Pasterkamp, R Jeroen
,
Kloosterman, Wigard P
,
Kuijk, Ewart W
,
Cuppen, Edwin
Published in
Genome medicine
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Identification of a novel SCA locus (SCA19) in a Dutch autosomal dominant cerebellar ataxia family on chromosome region 1p21-q21
by
VERBEEK, Dineke S
,
SCHELHAAS, Jurgen H
,
IPPEL, Elly F
,
BEEMER, Frits A
,
PEARSON, Peter L
,
SINKE, Richard J
Published in
Human genetics
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