Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Ann Saada‐Reisch"'
Autor:
Maja Tarailo‐Graovac, Farah R. Zahir, Irena Zivkovic, Michelle Moksa, Kathryn Selby, Sunita Sinha, Corey Nislow, Sylvia G. Stockler‐Ipsiroglu, Ruth Sheffer, Ann Saada‐Reisch, Jan M. Friedman, Clara D. M. vanKarnebeek, Gabriella A. Horvath
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features. Methods We performed genome sequencing for a patient wh
Externí odkaz:
https://doaj.org/article/431df59ffec0495999ad7c1a0e1e7857
Autor:
Clara D.M. van Karnebeek, Corey Nislow, Maja Tarailo-Graovac, Farah R. Zahir, Gabriella Horvath, Ann Saada‐Reisch, Michelle Moksa, Sunita Sinha, Jan M. Friedman, Kathryn Selby, Sylvia Stockler-Ipsiroglu, Irena Zivkovic, Ruth Sheffer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Molecular genetics and genomic medicine, 7(10):e961. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine
Molecular genetics and genomic medicine, 7(10):e961. John Wiley and Sons Inc.
Molecular Genetics & Genomic Medicine
Background Profiling the entire genome at base pair resolution in a single test offers novel insights into disease by means of dissection of genetic contributors to phenotypic features. Methods We performed genome sequencing for a patient who present
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10ae0ca728308aee7babc7b2cac5edc4
https://doaj.org/article/431df59ffec0495999ad7c1a0e1e7857
https://doaj.org/article/431df59ffec0495999ad7c1a0e1e7857
Autor:
Rashid Alshahoumi, Emanuele Barca, Christopher Beatty, Sirisak Chanprasert, Patrick F. Chinnery, John Christodoulou, Bruce H. Cohen, James E. Davison, Suzanne D. DeBrosse, Adela Della Marina, Beatriz García Díaz, Salvatore DiMauro, Simon Edvardson, Marni J. Falk, Xiaowu Gai, Amy Goldstein, Leon Grant, R.H. Haas, Michio Hirano, Rita Horvath, Pirjo Isohanni, Douglas S. Kerr, Mary Kay Koenig, Tuula Lönnqvist, Mariana Loos, S.E. Marin, Shana E. McCormack, Elizabeth M. McCormick, Robert K. Naviaux, Anders Paetau, Sumit Parikh, Emily Place, Catarina M. Quinzii, Shamima Rahman, Lisa Riley, Ann Saada (Reisch), Russell P. Saneto, Fernando Scaglia, Ulrike Schara, Kurenai Tanji, Mark Tarnopolsky, Patrick Yu-Wai-Man
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::02016d00896b01a9a443260795552a3b
https://doi.org/10.1016/b978-0-12-800877-5.01002-0
https://doi.org/10.1016/b978-0-12-800877-5.01002-0
Autor:
Ann Saada-Reisch
Publikováno v:
Nucleosides, Nucleotides and Nucleic Acids. 23:1205-1215
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a heterogeneous group of mitochondrial disorders, manifested by a decreased mtDNA copy number and respiratory chain dysfunction. Primary MDS are inherited autosomally and may affect a single org
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b147377b8a74ea7424ff5a3af91f965
https://doi.org/10.1081/ncn-200027480
https://doi.org/10.1081/ncn-200027480
Autor:
Ann Saada Reisch, Orly Elpeleg
Publisher Summary This chapter focuses on the biochemical assays for mitochondrial activity, which is assay of tricarboxylic acid (TCA) cycle enzymes and pyruvate dehydrogenase complex (PDHc). Defects in one of the counterparts is likely compatible w
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a167640b11e5f17f912e87fab744f0f0
https://doi.org/10.1016/s0091-679x(06)80010-5
https://doi.org/10.1016/s0091-679x(06)80010-5