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Subunits of mitochondrial complex I exist as part of matrix- and membrane-associated subcomplexes in living cells. [electronic resource] by
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- Swarts, Herman G
- Fransen, Jack
- Roepman, Ronald
- Crienen, Gijs
- Smeitink, Jan A M
- Nijtmans, Leo G J
- Koopman, Werner J H
Producer: 20090219
In:
The Journal of biological chemistry vol. 283
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322.
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Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect. [electronic resource] by
- Antonicka, Hana
- Ostergaard, Elsebet
- Sasarman, Florin
- Weraarpachai, Woranontee
- Wibrand, Flemming
- Pedersen, Anne Marie B
- Rodenburg, Richard J
- van der Knaap, Marjo S
- Smeitink, Jan A M
- Chrzanowska-Lightowlers, Zofia M
- Shoubridge, Eric A
Producer: 20100728
In:
American journal of human genetics vol. 87
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323.
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324.
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Mitochondrial function and morphology are impaired in parkin-mutant fibroblasts. [electronic resource] by
- Mortiboys, Heather
- Thomas, Kelly Jean
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- Abou-Sleiman, Patrick
- Olpin, Simon
- Wood, Nicholas W
- Willems, Peter H G M
- Smeitink, Jan A M
- Cookson, Mark R
- Bandmann, Oliver
Producer: 20090109
In:
Annals of neurology vol. 64
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325.
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Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy. [electronic resource] by
- Smits, Paulien
- Saada, Ann
- Wortmann, Saskia B
- Heister, Angelien J
- Brink, Maaike
- Pfundt, Rolph
- Miller, Chaya
- Haas, Dorothea
- Hantschmann, Ralph
- Rodenburg, Richard J T
- Smeitink, Jan A M
- van den Heuvel, Lambert P
Producer: 20110706
In:
European journal of human genetics : EJHG vol. 19
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Moderate citrullinaemia without hyperammonaemia in a child with mutated and deficient argininosuccinate synthetase. [electronic resource] by
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- Kobayashi, Keiko
- Iijima, Mikio
- Smeitink, Jan A M
- Engelke, Udo F H
- De Abreu, Ronney A
- Kwast, Hanneke T
- Saheki, Takeyori
- Boelen, Carolien A
- De Jong, Jan G N
- Wevers, Ron A
Producer: 20030625
In:
Annals of clinical biochemistry vol. 40
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328.
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Uncontrolled asthma at age 8: the importance of parental perception towards medication. [electronic resource] by
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- Wijga, Alet H
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- Postma, Dirkje S
- Brunekreef, Bert
- De Jongste, Johan C
- Smit, Henriette A
- Hoekstra, Maarten O
- Raaijmakers, Jan A M
- Maitland-van der Zee, Anke-Hilse
Producer: 20111123
In:
Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology vol. 22
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330.
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Genomotyping of Pseudomonas putida strains using P. putida KT2440-based high-density DNA microarrays: implications for transcriptomics studies. [electronic resource] by
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- Mars, Astrid E
- Hallsworth, John E
- dos Santos, Vitor A Martins
- Puchalka, Jaçek
- van Duuren, Joost
- Eggink, Gerrit
- Timmis, Ken N
- de Bont, Jan A M
- Wery, Jan
Producer: 20070918
In:
Applied microbiology and biotechnology vol. 75
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332.
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Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. [electronic resource] by
- Coenen, Marieke J H
- van den Heuvel, Lambert P
- Ugalde, Cristina
- Ten Brinke, Marike
- Nijtmans, Leo G J
- Trijbels, Frans J M
- Beblo, Skadi
- Maier, Esther M
- Muntau, Ania C
- Smeitink, Jan A M
Producer: 20041202
In:
Annals of neurology vol. 56
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333.
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A novel mutation in COQ2 leading to fatal infantile multisystem disease. [electronic resource] by
- Jakobs, Bernadette S
- van den Heuvel, Lambert P
- Smeets, Roel J P
- de Vries, Maaike C
- Hien, Steffen
- Schaible, Thomas
- Smeitink, Jan A M
- Wevers, Ron A
- Wortmann, Saskia B
- Rodenburg, Richard J T
Producer: 20131203
In:
Journal of the neurological sciences vol. 326
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335.
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Baculovirus complementation restores a novel NDUFAF2 mutation causing complex I deficiency. [electronic resource] by
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- Dieteren, Cindy E J
- Rodenburg, Richard J
- Naess, Karin
- Bruhn, Helene
- Wibom, Rolf
- Wagena, Esther
- Willems, Peter H
- Smeitink, Jan A M
- Nijtmans, Leo G
- van den Heuvel, Lambert P
Producer: 20090923
In:
Human mutation vol. 30
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337.
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338.
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High prevalence of complementary and alternative medicine use in patients with genetically proven mitochondrial disorders. [electronic resource] by
- Franik, Sebastian
- Huidekoper, Hidde H
- Visser, Gepke
- de Vries, Maaike
- de Boer, Lonneke
- Hermans-Peters, Marion
- Rodenburg, Richard
- Verhaak, Chris
- Vlieger, Arine M
- Smeitink, Jan A M
- Janssen, Mirian C H
- Wortmann, Saskia B
Producer: 20160325
In:
Journal of inherited metabolic disease vol. 38
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339.
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Serum FGF21 levels in adult m.3243A>G carriers: clinical implications. [electronic resource] by
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- de Laat, Paul
- van Tienoven, Doorlène H
- Vriens, Dennis
- Brandt, André M
- Sweep, Fred C G J
- Rodenburg, Richard J T
- Donders, A Rogier T
- Janssen, Mirian C H
- Smeitink, Jan A M
Producer: 20140827
In:
Neurology vol. 83
Availability: No items available.
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