Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Elizabeth Marchani Blue"'
Autor:
Gali Heimer, Juha M. Kerätär, Lisa G. Riley, Shanti Balasubramaniam, Eran Eyal, Laura P. Pietikäinen, J. Kalervo Hiltunen, Dina Marek-Yagel, Jeffrey Hamada, Allison Gregory, Caleb Rogers, Penelope Hogarth, Martha A. Nance, Nechama Shalva, Alvit Veber, Michal Tzadok, Andreea Nissenkorn, Davide Tonduti, Florence Renaldo, Ichraf Kraoua, Celeste Panteghini, Lorella Valletta, Barbara Garavaglia, Mark J. Cowley, Velimir Gayevskiy, Tony Roscioli, Jonathon M. Silberstein, Chen Hoffmann, Annick Raas-Rothschild, Valeria Tiranti, Yair Anikster, John Christodoulou, Alexander J. Kastaniotis, Bruria Ben-Zeev, Susan J. Hayflick, Michael J. Bamshad, Suzanne M. Leal, Deborah A. Nickerson, Peter Anderson, Marcus Annable, Elizabeth Marchani Blue, Kati J. Buckingham, Jennifer Chin, Jessica X. Chong, Rodolfo Cornejo, Colleen P. Davis, Christopher Frazar, Zongxiao He, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Tom Kolar, Stephanie A. Krauter, Daniel Luksic, Colby T. Marvin, Sean McGee, Daniel J. McGoldrick, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Peggy D. Robertson, Regie Santos-Cortez, Aditi Shankar, Krystal Slattery, Kathryn M. Shively, Deborah L. Siegel, Joshua D. Smith, Monica Tackett, Gao Wang, Marc Wegener, Jeffrey M. Weiss, Riana I. Wernick, Marsha M. Wheeler, Qian Yi
Publikováno v:
The American Journal of Human Genetics. 99:1229-1244
Mitochondrial fatty acid synthesis (mtFAS) is an evolutionarily conserved pathway essential for the function of the respiratory chain and several mitochondrial enzyme complexes. We report here a unique neurometabolic human disorder caused by defectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f5df4ba7c05bbdf056967b31831bace
https://doi.org/10.1016/j.ajhg.2016.09.021
https://doi.org/10.1016/j.ajhg.2016.09.021
Autor:
Jessica X. Chong, Lindsay C. Burrage, Anita E. Beck, Colby T. Marvin, Margaret J. McMillin, Kathryn M. Shively, Tanya M. Harrell, Kati J. Buckingham, Carlos A. Bacino, Mahim Jain, Yasemin Alanay, Susan A. Berry, John C. Carey, Richard A. Gibbs, Brendan H. Lee, Deborah Krakow, Jay Shendure, Deborah A. Nickerson, Michael J. Bamshad, Gonçalo R. Abecasis, Peter Anderson, Elizabeth Marchani Blue, Marcus Annable, Brian L. Browning, Christina Chen, Jennifer Chin, Gregory M. Cooper, Colleen P. Davis, Christopher Frazar, Zongxiao He, Preti Jain, Gail P. Jarvik, Guillaume Jimenez, Eric Johanson, Goo Jun, Martin Kircher, Tom Kolar, Stephanie A. Krauter, Niklas Krumm, Suzanne M. Leal, Daniel Luksic, Sean McGee, Patrick O’Reilly, Bryan Paeper, Karynne Patterson, Marcos Perez, Sam W. Phillips, Jessica Pijoan, Christa Poel, Frederic Reinier, Peggy D. Robertson, Regie Santos-Cortez, Tristan Shaffer, Cindy Shephard, Deborah L. Siegel, Joshua D. Smith, Jeffrey C. Staples, Holly K. Tabor, Monica Tackett, Jason G. Underwood, Marc Wegener, Gao Wang, Marsha M. Wheeler, Qian Yi
Publikováno v:
American journal of human genetics, vol 96, iss 5
Multiple pterygium syndrome (MPS) is a phenotypically and genetically heterogeneous group of rare Mendelian conditions characterized by multiple pterygia, scoliosis, and congenital contractures of the limbs. MPS typically segregates as an autosomal-r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f50354378674c120d40aab4e10ade2b7