Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions
Renkema, G. H., Visser, G., Baertling, F., Wintjes, L. T., Wolters, V. M., van Montfrans, J., de Kort, G. A. P., Nikkels, P. G. J., van Hasselt, P. M., van der Crabben, S. N., Rodenburg, R. J. T.
Published in Human genetics (01.06.2017)
Published in Human genetics (01.06.2017)
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NDUFA9 point mutations cause a variable mitochondrial complex I assembly defect
Baertling, F., Sánchez‐Caballero, L., van den Brand, M.A.M., Fung, C.‐W., Chan, S.H.‐S., Wong, V.C.‐N., Hellebrekers, D.M.E., de Coo, I.F.M., Smeitink, J.A.M., Rodenburg, R.J.T., Nijtmans, L.G.J.
Published in Clinical genetics (01.01.2018)
Published in Clinical genetics (01.01.2018)
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Pancreatitis in maple syrup urine disease -- a rare and easily overseen complication
Baertling, F, Mayatepek, E, Schlune, A, Thimm, E, Meißner, T
Published in Klinische Padiatrie (01.03.2013)
Published in Klinische Padiatrie (01.03.2013)
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Journal Article
A guide to diagnosis and treatment of Leigh syndrome
Baertling, Fabian, Rodenburg, Richard J, Schaper, Jörg, Smeitink, Jan A, Koopman, Werner J H, Mayatepek, Ertan, Morava, Eva, Distelmaier, Felix
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.03.2014)
Published in Journal of Neurology, Neurosurgery and Psychiatry (01.03.2014)
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Book Review
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration
Holzerova, Eliska, Danhauser, Katharina, Haack, Tobias B, Kremer, Laura S, Melcher, Marlen, Ingold, Irina, Kobayashi, Sho, Terrile, Caterina, Wolf, Petra, Schaper, Jörg, Mayatepek, Ertan, Baertling, Fabian, Friedmann Angeli, José Pedro, Conrad, Marcus, Strom, Tim M, Meitinger, Thomas, Prokisch, Holger, Distelmaier, Felix
Published in Brain (London, England : 1878) (01.02.2016)
Published in Brain (London, England : 1878) (01.02.2016)
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Effect of progesterone and estrogen on cisplatin-induced apoptosis of lung cancer cells
Karakaya, S., Grott, M., Mayer, F., Baertling, F., Beyer, C., Kipp, M., Kopp, H.
Published in Journal of clinical oncology (20.05.2011)
Published in Journal of clinical oncology (20.05.2011)
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