Concepedia

Sietske H. Kevelam

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Publications

12

Citations

840

H-Index

12

Active since

2011

Affiliations

Amsterdam Neuroscience(Current)

Amsterdam UMC Location Vrije Universiteit Amsterdam

Cognitive Research (United States)

University Medical Center Utrecht

Radboud University Nijmegen

Sietske H. Kevelam is an author at Amsterdam Neuroscience specializing in genetic disorders, neurogenetic disorders, and life sciences.

Publications per year

2011–2016

12

Publications

12

Novel (ovario) leukodystrophy related to <i>AARS2</i> mutations

Cristina Dallabona, Daria Diodato, Sietske H. Kevelam et al. · Neurology · 2014 · 203 citations · Full text

, , +15

Gain of glycosylation in integrin α3 causes lung disease and nephrotic syndrome

Nayia Nicolaou, Coert Margadant, Sietske H. Kevelam et al. · Journal of Clinical Investigation · 2012 · 130 citations · Full text

, , +17

Cathepsin A–related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Marianna Bugiani, Sietske H. Kevelam, Hannah S. Bakels et al. · Neurology · 2016 · 110 citations

, , +16

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

Sietske H. Kevelam, Marianna Bugiani, Gajja S. Salomons et al. · Brain · 2013 · 95 citations · Full text

, , +17

<i>NUBPL</i> mutations in patients with complex I deficiency and a distinct MRI pattern

Sietske H. Kevelam, Richard J. Rodenburg, Nicole I. Wolf et al. · Neurology · 2013 · 85 citations

, , +15

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