Trait Loss in Evolution: What Cavefish Have Taught Us about Mechanisms Underlying Eye Regression von Sifuentes-Romero, Itzel, Aviles, Ari M, Carter, Joseph L, Chan-Pong, Allen, Clarke, Anik, Crotty, Patrick, Engstrom, David, Meka, Pranav, Perez, Alexandra, Perez, Riley, Phelan, Christine, Sharrard, Taylor, Smirnova, Maria I, Wade, Amanda J, Kowalko, Johanna E

Volltext

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants von Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

Volltext

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency von Keshavan, Nandaki, Abdenur, Jose, Anderson, Glenn, Assouline, Zahra, Barcia, Giulia, Bouhikbar, Lamia, Chakrapani, Anupam, Cleary, Maureen, Cohen, Marta C., Feillet, François, Fratter, Carl, Hauser, Natalie, Jacques, Tom, Lam, Amanda, McCullagh, Helen, Phadke, Rahul, Rötig, Agnès, Sharrard, Mark, Simon, Mariella, Smith, Conrad, Sommerville, Ewen W., Taylor, Robert W., Yue, Wyatt W., Rahman, Shamima

Volltext

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants von Vogel, Georg F., Mozer-Glassberg, Yael, Landau, Yuval E., Schlieben, Lea D., Prokisch, Holger, Feichtinger, René G., Mayr, Johannes A., Brennenstuhl, Heiko, Schröter, Julian, Pechlaner, Agnes, Alkuraya, Fowzan S., Baker, Joshua J., Barcia, Giulia, Baric, Ivo, Braverman, Nancy, Burnyte, Birute, Christodoulou, John, Ciara, Elzbieta, Coman, David, Das, Anibh M., Darin, Niklas, Della Marina, Adela, Distelmaier, Felix, Eklund, Erik A., Ersoy, Melike, Fang, Weiyan, Gaignard, Pauline, Ganetzky, Rebecca D., Gonzales, Emmanuel, Howard, Caoimhe, Hughes, Joanne, Konstantopoulou, Vassiliki, Kose, Melis, Kerr, Marina, Khan, Aneal, Lenz, Dominic, McFarland, Robert, Margolis, Merav Gil, Morrison, Kevin, Müller, Thomas, Murayama, Kei, Nicastro, Emanuele, Pennisi, Alessandra, Peters, Heidi, Piekutowska-Abramczuk, Dorota, Rötig, Agnès, Santer, René, Scaglia, Fernando, Schiff, Manuel, Shagrani, Mohmmad, Sharrard, Mark, Soler-Alfonso, Claudia, Staufner, Christian, Storey, Imogen, Stormon, Michael, Taylor, Robert W., Thorburn, David R., Teles, Elisa Leao, Wang, Jian-She, Weghuber, Daniel, Wortmann, Saskia

Volltext

Hunterʼs Syndrome as a Cause of Childhood Carpal Tunnel Syndrome: A Report of Three Cases von Norman-Taylor, F, Fixsen, J A, Chir, M, Sharrard, W J. W

Volltext

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency von Keshavan, N, Abdenur, J, Anderson, G, Assouline, Z, Barcia, G, Bouhikbar, L, Chakrapani, A, Cleary, M, Cohen, MC, Feillet, F, Fratter, C, Hauser, N, Jacques, T, Lam, A, McCullagh, H, Phadke, R, Rötig, A, Sharrard, M, Simon, M, Smith, C, Sommerville, EW, Taylor, RW, Yue, WW, Rahman, S

Volltext bestellen