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Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
Differential Binding of Autoantibodies to MOG Isoforms in Inflammatory Demyelinating Diseases.
Schanda K, Peschl P, Lerch M, Seebacher B, Mindorf S, Ritter N, Probst M, Hegen H, Di Pauli F, Wendel EM, Lechner C, Baumann M, Mariotto S, Ferrari S, Saiz A, Farrell M, Leite MIS, Irani SR, Palace J, Lutterotti A, Kümpfel T, Vukusic S, Marignier R, Waters P, Rostasy K, Berger T, Probst C, Höftberger R, Reindl M. Schanda K, et al. Neurol Neuroimmunol Neuroinflamm. 2021 Jun 15;8(5):e1027. doi: 10.1212/NXI.0000000000001027. Print 2021 Jul. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34131067 Free PMC article.
First experiences with outpatient care of patients with implanted axial flow pumps.
Wieselthaler GM, Schima H, Dworschak M, Quittan M, Nuhr M, Czerny M, Seebacher G, Huber L, Grimm M, Wolner E. Wieselthaler GM, et al. Artif Organs. 2001 May;25(5):331-5. doi: 10.1046/j.1525-1594.2001.025005331.x. Artif Organs. 2001. PMID: 11403660
In the following patients, an increase of workload on the ergometer up to 120 W was observed. Correlated with training, lactate/load relationship and heart rate decreased. ...
In the following patients, an increase of workload on the ergometer up to 120 W was observed. Correlated with training, lactate/load …
The effect of heat transfer mode on heart rate responses and hysteresis during heating and cooling in the estuarine crocodile Crocodylus porosus.
Franklin CE, Seebacher F. Franklin CE, et al. J Exp Biol. 2003 Apr;206(Pt 7):1143-51. doi: 10.1242/jeb.00222. J Exp Biol. 2003. PMID: 12604574 Free article.
Heart rate increased or decreased rapidly when C. porosus experienced large positive (above 25 W) or negative (below -15 W) heat loads, respectively, in all treatments. For heat loads between -15 W and 20 W, the increase in heart rate was smaller for t …
Heart rate increased or decreased rapidly when C. porosus experienced large positive (above 25 W) or negative (below -15 W) he …
Energetic cost of a meal in a frequent feeding lizard.
Iglesias S, Thompson MB, Seebacher F. Iglesias S, et al. Comp Biochem Physiol A Mol Integr Physiol. 2003 Jul;135(3):377-82. doi: 10.1016/s1095-6433(03)00076-x. Comp Biochem Physiol A Mol Integr Physiol. 2003. PMID: 12829046