Zobrazeno 1 - 10
of 755
pro vyhledávání: '"Konczal, A."'
Autor:
Schulze, Andreas, Ficicioglu, Can, Harding, Cary O., Lam, Christina, Coughlin, Curtis R., 2nd, Wong, Derek, Diaz, George A., Berry, Gerard T., Enns, Gregory M., Wilkening, Greta, Seminara, Jennifer, Konczal, Laura, Lawrence Merritt, J., 2nd, Burrage, Lindsay C., Breilyn, Margo, Baumgartner, Matthias R., Mew, Nicholas Ah., Gallagher, Renata C., McCandless, Shawn E., Berry, Susan A., Stricker, Tamar, Zielonka, Matthias, Kölker, Stefan, Garbade, Sven F., Gleich, Florian, Nagamani, Sandesh C.S., Gropman, Andrea L., Druck, Ann-Catrin, Ramdhouni, Nesrine, Göde, Laura, Hoffmann, Georg F., Posset, Roland
Publikováno v:
In Molecular Genetics and Metabolism September-October 2024 143(1-2)
Autor:
Kuntal Sen, Rima Izem, Yuelin Long, Jiji Jiang, Laura L. Konczal, Robert J. McCarter, Members of the Urea Cycle Disorders Consortium (UCDC), Andrea L. Gropman, Jirair K. Bedoyan
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)
Abstract Background Ornithine transcarbamylase deficiency (OTCD) due to an X‐linked OTC mutation, is responsible for moderate to severe hyperammonemia (HA) with substantial morbidity and mortality. About 80% of females with OTCD remain apparently
Externí odkaz:
https://doaj.org/article/ff12e2767c3c4f77888b31bc65408744
Autor:
Silvia Marková, Hayley C. Lanier, Marco A. Escalante, Marcos O. R. da Cruz, Michaela Horníková, Mateusz Konczal, Lawrence J. Weider, Jeremy B. Searle, Petr Kotlík
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-11 (2023)
Abstract As climate change continues, species pushed outside their physiological tolerance limits must adapt or face extinction. When change is rapid, adaptation will largely harness ancestral variation, making the availability and characteristics of
Externí odkaz:
https://doaj.org/article/f319a3e3df934edda7becebc17be59e4
Autor:
Mew, Nicholas Ah, Seminara, Jennifer, Burrage, Lindsay C., Berry, Gerard T., Breilyn, Margo, Schulze, Andreas, Harding, Cary O., Berry, Susan A., Wong, Derek, McCandless, Shawn E., Baumgartner, Matthias R., Konczal, Laura, Ficicioglu, Can, Diaz, George A., Coughlin, Curtis R., 2nd, Enns, Gregory M., Gallagher, Renata C., Lam, Christina, Stricker, Tamar, Wilkening, Greta, Dionisi-Vici, Carlo, Dobbelaere, Dries, Blasco-Alonso, Javier, Burlina, Alberto B., Freisinger, Peter, van Hasselt, Peter M., Skouma, Anastasia, Lund, Allan M., Vara, Roshni, Sarajlija, Adrijan, Morris, Andrew A., Chakrapani, Anupam, Barić, Ivo, Augoustides-Savvopoulou, Persephone, Chien, Yin-Hsiu, Cortès-Saladelafont, Elisenda, Eyskens, Francois, Gramer, Gwendolyn, Zeman, Jiri, Karall, Daniela, Couce, Maria L., Mühlhausen, Chris, Pedrón-Giner, Consuelo, Spiekerkoetter, Ute, Sykut-Cegielska, Jolanta, Wagenmakers, Margreet, Wijburg, Frits A., Posset, Roland, Garbade, Sven F., Gleich, Florian, Scharre, Svenja, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C.S., Druck, Ann-Catrin, Epp, Friederike, Hoffmann, Georg F., Kölker, Stefan, Zielonka, Matthias
Publikováno v:
In Genetics in Medicine April 2024 26(4)
Autor:
Schulze, Andreas, García-Cazorla, Angeles, Ficicioglu, Can, Harding, Cary O., Lam, Christina, nd<%2Fce%3Asup>%22">Coughlin, Curtis R., 2nd<%2Fce%3Asup>%22">Lawrence Merritt, J., 2