Resultats de la cerca - Rodenburg, Richard

Biochemical diagnosis of mitochondrial disorders per Rodenburg, Richard J. T.

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The functional genomics laboratory: functional validation of genetic variants per Rodenburg, Richard J.

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Mitochondrial ATP synthase: architecture, function and pathology per Jonckheere, An I., Smeitink, Jan A. M., Rodenburg, Richard J. T.

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Mitochondrial function in diaphragm of emphysematous hamsters after treatment with nandrolone per Wijnhoven, Hanneke JH, Ennen, Leo, Rodenburg, Richard JT, Dekhuijzen, PN Richard

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Intra‐patient variability of heteroplasmy levels in urinary epithelial cells in carriers of the m.3243A>G mutation per de Laat, Paul, Rodenburg, Richard J., Smeitink, Jan A. M., Janssen, Mirian C. H.

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4‐Hydroxybenzoic acid restores CoQ(10) biosynthesis in human COQ2 deficiency per Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix

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Feeding difficulties, a key feature of the Drosophila NDUFS4 mitochondrial disease model per Foriel, Sarah, Beyrath, Julien, Eidhof, Ilse, Rodenburg, Richard J., Schenck, Annette, Smeitink, Jan A. M.

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Cardiac Arrest in Kearns–Sayre Syndrome per van Beynum, Ingrid, Morava, Eva, Taher, Marjan, Rodenburg, Richard J., Karteszi, Judit, Toth, Kalman, Szabados, Eszter

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Whole exome sequencing of suspected mitochondrial patients in clinical practice per Wortmann, Saskia B., Koolen, David A., Smeitink, Jan A., van den Heuvel, Lambert, Rodenburg, Richard J.

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Mitochondrial disorders in children: toward development of small‐molecule treatment strategies per Koopman, Werner JH, Beyrath, Julien, Fung, Cheuk‐Wing, Koene, Saskia, Rodenburg, Richard J, Willems, Peter HGM, Smeitink, Jan AM

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Leigh Syndrome with Nephropathy and CoQ(10) Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations per López, Luis Carlos , Schuelke, Markus , Quinzii, Catarina M. , Kanki, Tomotake , Rodenburg, Richard J. T. , Naini, Ali , DiMauro, Salvatore , Hirano, Michio 

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Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation per Verhaak, Christianne, de Laat, Paul, Koene, Saskia, Tibosch, Marijke, Rodenburg, Richard, de Groot, Imelda, Knoop, Hans, Janssen, Mirian, Smeitink, Jan

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SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature) per Maas, Roeltje R., Marina, Adela Della, de Brouwer, Arjan P. M., Wevers, Ron A., Rodenburg, Richard J, Wortmann, Saskia B.

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Three families with ‘de novo’ m.3243A > G mutation per de Laat, Paul, Janssen, Mirian C.H., Alston, Charlotte L., Taylor, Robert W., Rodenburg, Richard J.T., Smeitink, Jan A.M.

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Effectiveness of whole exome sequencing in unsolved patients with a clinical suspicion of a mitochondrial disorder in Estonia per Puusepp, Sanna, Reinson, Karit, Pajusalu, Sander, Murumets, Ülle, Õiglane-Shlik, Eve, Rein, Reet, Talvik, Inga, Rodenburg, Richard J., Õunap, Katrin

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A Drosophila Mitochondrial Complex I Deficiency Phenotype Array per Foriel, Sarah, Renkema, G. Herma, Lasarzewski, Yvonne, Berkhout, Job, Rodenburg, Richard J., Smeitink, Jan A. M., Beyrath, Julien, Schenck, Annette

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Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency per Kwong, Anna Ka‐Yee, Wong, Sheila Suet‐Na, Rodenburg, Richard J. T., Smeitink, Jan, Chan, Godfrey Chi Fung, Fung, Cheuk‐Wing

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Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes per Bosch, Annet M., Kamsteeg, Erik-Jan, Rodenburg, Richard J., van Deutekom, Arend W., Buis, Dennis R., Engelen, Marc, Cobben, Jan-Maarten

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Inheritance of the m.3243A>G mutation per de Laat, Paul, Koene, Saskia, Heuvel, Lambert P. W. J. vd, Rodenburg, Richard J. T., Janssen, Mirian C. H., Smeitink, Jan A. M.

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Mitochondrial RNA processing defect caused by a SUPV3L1 mutation in two siblings with a novel neurodegenerative syndrome per van Esveld, Selma L., Rodenburg, Richard J., Al‐Murshedi, Fathiya, Al‐Ajmi, Eiman, Al‐Zuhaibi, Sana, Huynen, Martijn A., Spelbrink, Johannes N.

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