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Verheijen, F.W. (Frans)
189  results:
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1

DNAJC6 Mutations Associated with Early-Onset Parkinson's Di..:

Olgiati, S. (Simone) ; Quadri, M. (Marialuisa) ; Fang, M. (Mingyan)...
http://repub.eur.nl/pub/90979.  , 2016
Link: http://repub.eur.nl/pub/..
 
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2

Molybdenum cofactor deficiency: Identification of a patient..:

Huijmans, Jan G. M. ; Schot, Rachel ; de Klerk, Johannis B. C....
American Journal of Medical Genetics Part A.  173 (2017)  6 - p. 1601-1606 , 2017
Link: https://doi.org/10.1002/..
 
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3

Progressive leukoencephalopathy impairs neurobehavioral dev..:

Stroobants, Stijn ; Van Acker, Nathalie G.G. ; Verheijen, Frans W....
Experimental Neurology.  291 (2017)  - p. 106-119 , 2017
Link: https://doi.org/10.1016/..
 
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4

Correction: Human mutations in integrator complex subunits ..:

Oegema, Renske ; Baillat, David ; Schot, Rachel...
PLOS Genetics.  13 (2017)  8 - p. e1006923 , 2017
Link: https://doi.org/10.1371/..
 
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5

Human mutations in integrator complex subunits link transcr..:

Oegema, Renske ; Baillat, David ; Schot, Rachel...
PLOS Genetics.  13 (2017)  5 - p. e1006809 , 2017
Link: https://doi.org/10.1371/..
 
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6

Paroxysmal exercise-induced dystonia within the phenotypic ..:

Olgiati, Simone ; Skorvanek, Matej ; Quadri, Marialuisa...
Movement Disorders.  31 (2016)  7 - p. 1041-1048 , 2016
Link: https://doi.org/10.1002/..
 
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7

Prenatal screening of sialic acid storage disease and confi..:

den van Bosch, Jeroen ; Oemardien, Linda F. ; Srebniak, Malgorzata I....
Journal of Inherited Metabolic Disease.  34 (2011)  5 - p. 1069-1073 , 2011
Link: https://doi.org/10.1007/..
 
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8

Transcriptional profiling of fibroblasts from patients with..:

Visser, W. Edward ; Swagemakers, Sigrid M.A. ; Őzgűr, Zeliha...
Human Molecular Genetics.  19 (2010)  21 - p. 4189-4200 , 2010
Link: https://doi.org/10.1093/..
 
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9

Free sialic acid storage disease without sialuria:

Mochel, Fanny ; Yang, Bingzhi ; Barritault, Julie...
Annals of Neurology.  65 (2009)  6 - p. 753-757 , 2009
Link: https://doi.org/10.1002/..
 
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10

Isolation and structural characterization of sialic acid-co..:

van Pelt, Johannes ; Kamerling, Johannes P. ; Vligenthart, Johannes F.G...
Biochimica et Biophysica Acta (BBA) - General Subjects.  965 (1988)  1 - p. 36-45 , 1988
Link: https://doi.org/10.1016/..
 
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11

Human RAD50 deficiency: Confirmation of a distinctive pheno..:

Ragamin, A. (Aviël) ; Yigit, G. (Gökhan) ; Bousset, K. (Kristine)...
http://repub.eur.nl/pub/125846.  , 2020
Link: http://repub.eur.nl/pub/..
 
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12

Segmental and total uniparental isodisomy (UPiD) as a disea..:

Labrijn-Marks, I ; Somers-Bolman, G.M ; Groen, S...
http://repub.eur.nl/pub/116844.  , 2019
Link: http://repub.eur.nl/pub/..
 
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13

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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14

Candidate CSPG4 mutations and induced pluripotent stem cell..:

Vrij, F.M.S. (Femke) ; Bouwkamp, C.G. (Christian) ; Gunhanlar, N. (Nilhan)...
http://repub.eur.nl/pub/103952.  , 2018
Link: http://repub.eur.nl/pub/..
 
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15

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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