Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Hayley Salvemini"'
Autor:
Marisa W. Friederich, Sharita Timal, Christopher A. Powell, Cristina Dallabona, Alina Kurolap, Sara Palacios-Zambrano, Drago Bratkovic, Terry G. J. Derks, David Bick, Katelijne Bouman, Kathryn C. Chatfield, Nadine Damouny-Naoum, Megan K. Dishop, Tzipora C. Falik-Zaccai, Fuad Fares, Ayalla Fedida, Ileana Ferrero, Renata C. Gallagher, Rafael Garesse, Micol Gilberti, Cristina González, Katherine Gowan, Clair Habib, Rebecca K. Halligan, Limor Kalfon, Kaz Knight, Dirk Lefeber, Laura Mamblona, Hanna Mandel, Adi Mory, John Ottoson, Tamar Paperna, Ger J. M. Pruijn, Pedro F. Rebelo-Guiomar, Ann Saada, Bruno Sainz, Hayley Salvemini, Mirthe H. Schoots, Jan A. Smeitink, Maciej J. Szukszto, Hendrik J. ter Horst, Frans van den Brandt, Francjan J. van Spronsen, Joris A. Veltman, Eric Wartchow, Liesbeth T. Wintjes, Yaniv Zohar, Miguel A. Fernández-Moreno, Hagit N. Baris, Claudia Donnini, Michal Minczuk, Richard J. Rodenburg, Johan L. K. Van Hove
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Abstract Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidatio
Externí odkaz:
https://doaj.org/article/5e2c03b6081043e5add48aba3812d059
Autor:
Mary-Anne Young, Ivan Macciocca, Alison McEwen, Rachel Williams, Hayley Salvemini, Carolyn Shalhoub, Amy Pearn, Michael Milward, Jennifer Berkman, Clara Gaff, Kate E. Riley, Cass Hoskins
Publikováno v:
Journal of genetic counselingREFERENCES. 30(2)
As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Austr
Autor:
Kirsty Stallard, Kate E. Riley, Electra Pontikinas, Anne Baxendale, Hayley Salvemini, Lara Fitzgerald, Eric Haan, Sarah Borrie
Publikováno v:
Journal of Genetic Counseling. 26:159-172
The role of genetic counselors in prenatal paternity testing has not been widely studied in the genetic counseling literature. In South Australia, the genetic counselors of the State's public sector clinical genetics service are the primary contact p
Autor:
Hanna Mandel, Ger J. M. Pruijn, Sharita Timal, Clair Habib, Richard J. Rodenburg, Dirk Lefeber, Pedro Rebelo-Guiomar, Mirthe H. Schoots, Frans van den Brandt, Jan A.M. Smeitink, Alina Kurolap, Rebecca Halligan, Marisa W. Friederich, Kathryn C. Chatfield, Liesbeth T. Wintjes, Hagit N. Baris, Ileana Ferrero, Terry G J Derks, Bruno Sainz, Hendrik J. ter Horst, Maciej J. Szukszto, Miguel Ángel Fernández-Moreno, Limor Kalfon, Claudia Donnini, Michal Minczuk, Megan K. Dishop, Tamar Paperna, Francjan J. van Spronsen, Sara Palacios-Zambrano, Ann Saada, Fuad Fares, Micol Gilberti, Eric P. Wartchow, Yaniv Zohar, Tzipora C. Falik-Zaccai, Ayalla Fedida, Katherine Gowan, Rafael Garesse, Nadine Damouny-Naoum, Johan L.K. Van Hove, Cristina Dallabona, Christopher A. Powell, Adi Mory, Joris A. Veltman, Cristina González, Kaz M. Knight, David Bick, Renata C. Gallagher, Katelijne Bouman, John Ottoson, Hayley Salvemini, Drago Bratkovic, Laura Mamblona
Publikováno v:
Nature Communications, 9(1):4065. Nature Publishing Group
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications, 9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
Nature Communications, 9
Digital.CSIC. Repositorio Institucional del CSIC
instname
Biblos-e Archivo. Repositorio Institucional de la UAM
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Mitochondrial protein synthesis requires charging mt-tRNAs with their cognate amino acids by mitochondrial aminoacyl-tRNA synthetases, with the exception of glutaminyl mt-tRNA (mt-tRNAGln). mt-tRNAGln is indirectly charged by a transamidation reactio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e96e045c0b287003de5f67c13f22fb98
https://www.repository.cam.ac.uk/handle/1810/286571
https://www.repository.cam.ac.uk/handle/1810/286571
Autor:
David Ketteridge, Dylan A. Mordaunt, Hamish S. Scott, Drago Bratkovic, Karin S. Kassahn, Afdal Ibrahim, Nicholas Smith, Liam C. McIntyre, Hayley Salvemini
Publikováno v:
American journal of medical genetics. Part A. (11)
The Mitochondrial tRNALeu (MT-TL1) mutation, m.3243A>G constitutes the commonest identified mitochondrial genome mutation. Characteristically, giving rise to MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes), a phenotypi