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X
Kevelam, Sietske H.G.
18  Ergebnisse:
Personensuche X
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1

Copy Number Variations in Patients With Electrical Status E..:

Kevelam, Sietske H.G. ; Jansen, Floor E. ; Binsbergen, Ellen van...
Journal of Child Neurology.  27 (2011)  2 - p. 178-182 , 2011
Link: https://doi.org/10.1177/..
 
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2

A patient with a mild holoprosencephaly spectrum phenotype ..:

Kevelam, Sietske H.G. ; van Harssel, Jeske J.T. ; van der Zwaag, Bert...
American Journal of Medical Genetics Part A.  158A (2011)  1 - p. 166-173 , 2011
Link: https://doi.org/10.1002/..
 
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3

Acute intermittent porphyria-related leukoencephalopathy:

Kevelam, Sietske H. ; Neeleman, Rochus A. ; Waisfisz, Quinten...
Neurology.  87 (2016)  12 - p. 1258-1265 , 2016
Link: https://doi.org/10.1212/..
 
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4

AlteredPLP1splicing causes hypomyelination of early myelina..:

Kevelam, Sietske H. ; Taube, Jennifer R. ; van Spaendonk, Rosalina M. L....
Annals of Clinical and Translational Neurology.  2 (2015)  6 - p. 648-661 , 2015
Link: https://doi.org/10.1002/..
 
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5

LAMA2 mutations in adult-onset muscular dystrophy with leuk..:

Kevelam, Sietske H. ; van Engelen, Baziel G.M. ; van Berkel, Carola G.M...
Muscle & Nerve.  49 (2014)  4 - p. 616-617 , 2014
Link: https://doi.org/10.1002/..
 
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6

NUBPLmutations in patients with complex I deficiency and a ..:

Kevelam, Sietske H. ; Rodenburg, Richard J. ; Wolf, Nicole I....
Neurology.  80 (2013)  17 - p. 1577-1583 , 2013
Link: https://doi.org/10.1212/..
 
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7

Altered PLP1 splicing causes hypomyelination of early myeli..:

Kevelam, Sietske H ; Taube, Jennifer R ; van Spaendonk, Rosalina M L...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4479525/.  , 2015
Link: http://www.ncbi.nlm.nih...
 
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8

NUBPL mutations in patients with complex I deficiency and a..:

Kevelam, Sietske H ; Rodenburg, Richard J ; Wolf, Nicole I...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3662327.  , 2013
Link: http://www.ncbi.nlm.nih...
 
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9

Gain of glycosylation in integrin α3 causes lung disease an..:

Nicolaou, Nayia ; Margadant, Coert ; Kevelam, Sietske H...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3533548.  , 2012
Link: http://www.ncbi.nlm.nih...
 
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10

Author response: Cathepsin A–related arteriopathy with stro..:

van der Knaap, Marjo S. ; Bugiani, Marianna ; Kevelam, Sietske H.
Neurology.  88 (2017)  18 - p. 1776-1776 , 2017
Link: https://doi.org/10.1212/..
 
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11

Author response: Acute intermittent porphyria-related leuko..:

van der Knaap, Marjo S. ; Kevelam, Sietske H.
Neurology.  88 (2017)  7 - p. 718-719 , 2017
Link: https://doi.org/10.1212/..
 
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12

Cathepsin A–related arteriopathy with strokes and leukoence..:

Bugiani, Marianna ; Kevelam, Sietske H. ; Bakels, Hannah S....
Neurology.  87 (2016)  17 - p. 1777-1786 , 2016
Link: https://doi.org/10.1212/..
 
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13

Recessive ITPA mutations cause an early infantile encephalo..:

Kevelam, Sietske H. ; Bierau, Jörgen ; Salvarinova, Ramona...
Annals of Neurology.  78 (2015)  4 - p. 649-658 , 2015
Link: https://doi.org/10.1002/..
 
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14

Reply: Infantile Leigh-like syndrome caused by SLC19A3 muta..:

van der Knaap, Marjo S. ; Kevelam, Sietske H.
Brain.  137 (2014)  9 - p. e297-e297 , 2014
Link: https://doi.org/10.1093/..
 
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15

Novel (ovario) leukodystrophy related toAARS2mutations:

Dallabona, Cristina ; Diodato, Daria ; Kevelam, Sietske H....
Neurology.  82 (2014)  23 - p. 2063-2071 , 2014
Link: https://doi.org/10.1212/..
 
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