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Page 1
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
Repp BM, Mastantuono E, Alston CL, Schiff M, Haack TB, Rötig A, Ardissone A, Lombès A, Catarino CB, Diodato D, Schottmann G, Poulton J, Burlina A, Jonckheere A, Munnich A, Rolinski B, Ghezzi D, Rokicki D, Wellesley D, Martinelli D, Wenhong D, Lamantea E, Ostergaard E, Pronicka E, Pierre G, Smeets HJM, Wittig I, Scurr I, de Coo IFM, Moroni I, Smet J, Mayr JA, Dai L, de Meirleir L, Schuelke M, Zeviani M, Morscher RJ, McFarland R, Seneca S, Klopstock T, Meitinger T, Wieland T, Strom TM, Herberg U, Ahting U, Sperl W, Nassogne MC, Ling H, Fang F, Freisinger P, Van Coster R, Strecker V, Taylor RW, Häberle J, Vockley J, Prokisch H, Wortmann S. Repp BM, et al. Among authors: herberg u. Orphanet J Rare Dis. 2018 Jul 19;13(1):120. doi: 10.1186/s13023-018-0784-8. Orphanet J Rare Dis. 2018. PMID: 30025539 Free PMC article.
Fetal Cardiac Cine MRI with Doppler US Gating in Complex Congenital Heart Disease.
Vollbrecht TM, Hart C, Zhang S, Katemann C, Isaak A, Pieper CC, Kuetting D, Faridi B, Strizek B, Attenberger U, Kipfmueller F, Herberg U, Geipel A, Luetkens JA. Vollbrecht TM, et al. Among authors: herberg u. Radiol Cardiothorac Imaging. 2023 Feb 23;5(1):e220129. doi: 10.1148/ryct.220129. eCollection 2023 Feb. Radiol Cardiothorac Imaging. 2023. PMID: 36860838 Free PMC article.
Prediction of postnatal circulation in pulmonary atresia/critical stenosis with intact ventricular septum: systematic review and external validation of models.
Villalaín C, Moon-Grady AJ, Herberg U, Strainic J, Cohen JL, Shah A, Levi DS, Gómez-Montes E, Herraiz I, Galindo A. Villalaín C, et al. Among authors: herberg u. Ultrasound Obstet Gynecol. 2023 Jul;62(1):14-22. doi: 10.1002/uog.26176. Epub 2023 Jun 5. Ultrasound Obstet Gynecol. 2023. PMID: 36776132 Free article. Review.
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H. Haack TB, et al. Among authors: herberg u. J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846. J Med Genet. 2012. PMID: 22499348
Whole-Exome Sequencing in Nine Monozygotic Discordant Twins.
Zhang R, Thiele H, Bartmann P, Hilger AC, Berg C, Herberg U, Klingmüller D, Nürnberg P, Ludwig M, Reutter H. Zhang R, et al. Among authors: herberg u. Twin Res Hum Genet. 2016 Feb;19(1):60-5. doi: 10.1017/thg.2015.93. Epub 2015 Dec 18. Twin Res Hum Genet. 2016. PMID: 26681452
112 results