Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Efrat Burak"'
Autor:
David A. Zeevi, Sophie Kirshberg, Dina Kort, Sharon Zeligson, Aharon Peretz, Ephrat Levy-Lahad, Tal Dror, Gheona Altarescu, Yehuda Kling, Fouad Zahdeh, Tzvia Rosen, Reeval Segel, Daniel Backenroth, Efrat Burak, David Zangen, Shai Carmi
Publikováno v:
Genetics in Medicine. 21:1390-1399
To develop an economical, user-friendly, and accurate all-in-one next-generation sequencing (NGS)-based workflow for single-cell gene variant detection combined with comprehensive chromosome screening in a 24-hour workflow protocol. We subjected sing
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::931d22aef20c987973cd603262342b6f
https://doi.org/10.1038/s41436-018-0351-7
https://doi.org/10.1038/s41436-018-0351-7
Autor:
Muhammad Mahajna, Asaf Ta-Shma, Ann Saada, Jonatan Halvardson, Ophry Pines, Shimon Edvardson, Shamir Zenvirt, Lars Feuk, Ronen Spiegel, Avraham Shaag, Orly Elpeleg, Efrat Burak, Stavit A. Shalev
Publikováno v:
The American Journal of Human Genetics. 90(3):518-523
Degeneration of the cerebrum, cerebellum, and retina in infancy is part of the clinical spectrum of lysosomal storage disorders, mitochondrial respiratory chain defects, carbohydrate glycosylation defects, and infantile neuroaxonal dystrophy. We stud
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff4aaea39d899867ba305a19d3d273e0
Publikováno v:
Molecular biology and evolution. 30(7)
Dual targeting is an important and abundant phenomenon. Indeed, we estimate that more than a third of the yeast mitochondrial proteome is dual localized. The enzyme fumarase is a highly conserved protein in all organisms with respect to its sequence,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b093f58c6259001790638c126ea6577f
https://pubmed.ncbi.nlm.nih.gov/23462316
https://pubmed.ncbi.nlm.nih.gov/23462316