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Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA. [electronic resource] by
- Catarino, Claudia B
- Ahting, Uwe
- Gusic, Mirjana
- Iuso, Arcangela
- Repp, Birgit
- Peters, Katrin
- Biskup, Saskia
- von Livonius, Bettina
- Prokisch, Holger
- Klopstock, Thomas
Producer: 20180522
In:
Mitochondrion vol. 36
Availability: No items available.
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Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice. [electronic resource] by
- Franko, Andras
- Huypens, Peter
- Neschen, Susanne
- Irmler, Martin
- Rozman, Jan
- Rathkolb, Birgit
- Neff, Frauke
- Prehn, Cornelia
- Dubois, Guillaume
- Baumann, Martina
- Massinger, Rebecca
- Gradinger, Daniel
- Przemeck, Gerhard K H
- Repp, Birgit
- Aichler, Michaela
- Feuchtinger, Annette
- Schommers, Philipp
- Stöhr, Oliver
- Sanchez-Lasheras, Carmen
- Adamski, Jerzy
- Peter, Andreas
- Prokisch, Holger
- Beckers, Johannes
- Walch, Axel K
- Fuchs, Helmut
- Wolf, Eckhard
- Schubert, Markus
- Wiesner, Rudolf J
- Hrabě de Angelis, Martin
Producer: 20170605
In:
Diabetes vol. 65
Availability: No items available.
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Genetic diagnosis of Mendelian disorders via RNA sequencing. [electronic resource] by
- Kremer, Laura S
- Bader, Daniel M
- Mertes, Christian
- Kopajtich, Robert
- Pichler, Garwin
- Iuso, Arcangela
- Haack, Tobias B
- Graf, Elisabeth
- Schwarzmayr, Thomas
- Terrile, Caterina
- Koňaříková, Eliška
- Repp, Birgit
- Kastenmüller, Gabi
- Adamski, Jerzy
- Lichtner, Peter
- Leonhardt, Christoph
- Funalot, Benoit
- Donati, Alice
- Tiranti, Valeria
- Lombes, Anne
- Jardel, Claude
- Gläser, Dieter
- Taylor, Robert W
- Ghezzi, Daniele
- Mayr, Johannes A
- Rötig, Agnes
- Freisinger, Peter
- Distelmaier, Felix
- Strom, Tim M
- Meitinger, Thomas
- Gagneur, Julien
- Prokisch, Holger
Producer: 20181121
In:
Nature communications vol. 8
Availability: No items available.
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Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? [electronic resource] by
- Repp, Birgit M
- Mastantuono, Elisa
- Alston, Charlotte L
- Schiff, Manuel
- Haack, Tobias B
- Rötig, Agnes
- Ardissone, Anna
- Lombès, Anne
- Catarino, Claudia B
- Diodato, Daria
- Schottmann, Gudrun
- Poulton, Joanna
- Burlina, Alberto
- Jonckheere, An
- Munnich, Arnold
- Rolinski, Boris
- Ghezzi, Daniele
- Rokicki, Dariusz
- Wellesley, Diana
- Martinelli, Diego
- Wenhong, Ding
- Lamantea, Eleonora
- Ostergaard, Elsebet
- Pronicka, Ewa
- Pierre, Germaine
- Smeets, Hubert J M
- Wittig, Ilka
- Scurr, Ingrid
- de Coo, Irenaeus F M
- Moroni, Isabella
- Smet, Joél
- Mayr, Johannes A
- Dai, Lifang
- de Meirleir, Linda
- Schuelke, Markus
- Zeviani, Massimo
- Morscher, Raphael J
- McFarland, Robert
- Seneca, Sara
- Klopstock, Thomas
- Meitinger, Thomas
- Wieland, Thomas
- Strom, Tim M
- Herberg, Ulrike
- Ahting, Uwe
- Sperl, Wolfgang
- Nassogne, Marie-Cecile
- Ling, Han
- Fang, Fang
- Freisinger, Peter
- Van Coster, Rudy
- Strecker, Valentina
- Taylor, Robert W
- Häberle, Johannes
- Vockley, Jerry
- Prokisch, Holger
- Wortmann, Saskia
Producer: 20190318
In:
Orphanet journal of rare diseases vol. 13
Availability: No items available.
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