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Schoonderwoerd, Kees
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1

Clinical, biochemical and molecular characteristics of malo..:

Chapel-Crespo, Cristel ; Gavrilov, Dimitar ; Sowa, Mary...
Molecular Genetics and Metabolism.  128 (2019)  1-2 - p. 113-121 , 2019
Link: https://doi.org/10.1016/..
 
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2

Hexb enzyme deficiency leads to lysosomal abnormalities in ..:

Kuil, Laura E. ; López Martí, Anna ; Carreras Mascaro, Ana...
Glia.  67 (2019)  9 - p. 1705-1718 , 2019
Link: https://doi.org/10.1002/..
 
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3

Genetic defects in mtDNA-encoded protein translation cause ..:

Kamps, Rick ; Szklarczyk, Radek ; Theunissen, Tom E....
European Journal of Human Genetics.  26 (2018)  4 - p. 537-551 , 2018
Link: https://doi.org/10.1038/..
 
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4

Decreased mitochondrial respiration in aneurysmal aortas of..:

van der Pluijm, Ingrid ; Burger, Joyce ; van Heijningen, Paula M...
Cardiovascular Research.  114 (2018)  13 - p. 1776-1793 , 2018
Link: https://doi.org/10.1093/..
 
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5

Whole Exome Sequencing Is the Preferred Strategy to Identif..:

Theunissen, Tom E. J. ; Nguyen, Minh ; Kamps, Rick...
Frontiers in Genetics.  9 (2018)  - p. , 2018
Link: https://doi.org/10.3389/..
 
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6

Rapid Resolution of Blended or Composite Multigenic Disease..:

Theunissen, Tom E.J. ; Sallevelt, Suzanne C.E.H. ; Hellebrekers, Debby M.E.I....
The Journal of Pediatrics.  182 (2017)  - p. 371-374.e2 , 2017
Link: https://doi.org/10.1016/..
 
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7

Selection and Characterization of Palmitic Acid Responsive ..:

Theunissen, Tom E. J. ; Gerards, Mike ; Hellebrekers, Debby M. E. I....
Frontiers in Molecular Neuroscience.  10 (2017)  - p. , 2017
Link: https://doi.org/10.3389/..
 
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8

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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9

Inherited metabolic disorders: Quality management for labor..:

Verma, Jyotsna ; Thomas, Divya C. ; Sharma, Sandeepika...
Clinica Chimica Acta.  447 (2015)  - p. 1-7 , 2015
Link: https://doi.org/10.1016/..
 
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10

Exome sequencing reveals a novel Moroccan founder mutation ..:

Gerards, Mike ; Kamps, Rick ; van Oevelen, Jo...
Brain.  136 (2013)  3 - p. 882-890 , 2013
Link: https://doi.org/10.1093/..
 
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11

Riboflavin-responsive oxidative phosphorylation complex I d..:

Gerards, Mike ; van den Bosch, Bianca J. C. ; Danhauser, Katharina...
Brain.  134 (2010)  1 - p. 210-219 , 2010
Link: https://doi.org/10.1093/..
 
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12

Nonsense mutations in CABC1/ADCK3 cause progressive cerebel..:

Gerards, Mike ; van den Bosch, Bianca ; Calis, Chantal...
Mitochondrion.  10 (2010)  5 - p. 510-515 , 2010
Link: https://doi.org/10.1016/..
 
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13

Ischemic preconditioning modulates mitochondrial respiratio..:

Liem, David A. ; Manintveld, Olivier C. ; Schoonderwoerd, Kees...
Translational Research.  151 (2008)  1 - p. 17-26 , 2008
Link: https://doi.org/10.1016/..
 
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14

Phenotypic consequences of a novel SCO2 gene mutation:

Verdijk, Rob M. ; de Krijger, Ronald ; Schoonderwoerd, Kees...
American Journal of Medical Genetics Part A.  146A (2008)  21 - p. 2822-2827 , 2008
Link: https://doi.org/10.1002/..
 
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15

Aminolaevulinic Acid-induced Protoporphyrin IX Pharmacokine..:

Gabeler, Edward E. E. ; Sluiter, Wim ; Hillegersberg, Richard...
Photochemistry and Photobiology.  78 (2007)  1 - p. 82-87 , 2007
Link: https://doi.org/10.1562/..
 
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