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Schot, R. (Rachel)
113  results:
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1

SMPD4 regulates mitotic nuclear envelope dynamics and its l..:

Smits, Daphne J ; Schot, Rachel ; Krusy, Nathalie...
Brain.  146 (2023)  8 - p. 3528-3541 , 2023
Link: https://doi.org/10.1093/..
 
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2

Goldberg–Shprintzen syndrome is determined by the absence, ..:

MacKenzie, K.C ; Graaf, B.M. (Bianca) de ; Syrimis, A...
http://repub.eur.nl/pub/133815.  , 2020
Link: http://repub.eur.nl/pub/..
 
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3

Histone H3.3 beyond cancer: Germline mutations in Histone 3..:

Bryant, L. (Laura) ; Li, D. (Dong) ; Cox, S.G. (Samuel G.)...
http://repub.eur.nl/pub/132337.  , 2020
Link: http://repub.eur.nl/pub/..
 
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4

Defining the phenotypical spectrum associated with variants..:

Brock, S. (Stefanie) ; Vanderhasselt, T. (Tim) ; Vermaning, S. (Sietske)...
http://repub.eur.nl/pub/128184.  , 2020
Link: http://repub.eur.nl/pub/..
 
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5

Heterogeneous clinical phenotypes and cerebral malformation..:

Vandervore, L.V ; Schot, R. (Rachel) ; Kasteleijn, E...
http://repub.eur.nl/pub/118248.  , 2019
Link: http://repub.eur.nl/pub/..
 
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6

Human mutations in integrator complex subunits link transcr..:

Oegema, R. (Renske) ; Baillat, D. (David) ; Schot, R. (Rachel)...
http://repub.eur.nl/pub/100394.  , 2017
Link: http://repub.eur.nl/pub/..
 
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7

Hypomorphic Recessive Variants in SUFU Impair the Sonic Hed..:

De Mori, R. (Roberta) ; Romani, M. (Marta) ; D'Arrigo, S. (Stefano)...
http://repub.eur.nl/pub/102295.  , 2017
Link: http://repub.eur.nl/pub/..
 
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8

Progressive leukoencephalopathy impairs neurobehavioral dev..:

Stroobants, S. (Stijn) ; Van Acker, N.G.G. (Nathalie G.G.) ; Verheijen, F.W. (Frans)...
http://repub.eur.nl/pub/98085.  , 2017
Link: http://repub.eur.nl/pub/..
 
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9

Human USP18 deficiency underlies type 1 interferonopathy le..:

Meuwissen, M.E.C. (Marije) ; Schot, R. (Rachel) ; Buta, S. (Sofija)...
http://repub.eur.nl/pub/96411.  , 2016
Link: http://repub.eur.nl/pub/..
 
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10

COL4A2 mutation associated with familial porencephaly and s..:

Verbeek, E. (Elly) ; Meuwissen, M.E.C. (Marije) ; Verheijen, F.W. (Frans)...
http://repub.eur.nl/pub/64931.  , 2012
Link: http://repub.eur.nl/pub/..
 
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11

NPHP4 variants are associated with pleiotropic heart malfor..:

French, V.M. (Vanessa) ; Laar, I.M.B.H. (Ingrid) van de ; Wessels, M.W. (Marja)...
http://repub.eur.nl/pub/63542.  , 2012
Link: http://repub.eur.nl/pub/..
 
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12

RTTN mutations link primary cilia function to organization ..:

Kia, S.K ; Verbeek, E. (Elly) ; Engelen, M.P. (Erik)...
http://repub.eur.nl/pub/37716.  , 2012
Link: http://repub.eur.nl/pub/..
 
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13

Microcephaly with simplified gyration, epilepsy, and infant..:

Poulton, C.J. (Cathryn) ; Schot, R. (Rachel) ; Kia, S.K...
http://repub.eur.nl/pub/33329.  , 2011
Link: http://repub.eur.nl/pub/..
 
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14

Distinctive phenotypic abnormalities associated with submic..:

Oegema, R. (Renske) ; Klein, J.E.M.M. (Annelies) de ; Verkerk, A...
http://repub.eur.nl/pub/62767.  , 2010
Link: http://repub.eur.nl/pub/..
 
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15

Unbalanced der(5)t(5;20) translocation associated with mega..:

Verkerk, A.J.H.M. (Annemieke) ; Schot, R. (Rachel) ; Waterschoot, L. (Laura) van...
http://repub.eur.nl/pub/28556.  , 2010
Link: http://repub.eur.nl/pub/..
 
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