المؤلفون: Tova Hershkovitz, Alina Kurolap, Galit Tal, Tamar Paperna, Adi Mory, Jeffrey Staples, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Elena Dumin, Ann Saada, Hanna Mandel, Hagit Baris Feldman

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss , Pp 100699- (2021)

مصطلحات موضوعية: NFS1, Iron‑sulfur clusters, Mitochondrial disease, Intra-familial variability, Hot-spot variant, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920301452; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/f079a3ffc9ef481eab1415a8fe09e5b2

المؤلفون: Tova, Hershkovitz, Alina, Kurolap, Galit, Tal, Tamar, Paperna, Adi, Mory, Jeffrey, Staples, Karlla W, Brigatti, Claudia, Gonzaga-Jauregui, Elena, Dumin, Ann, Saada, Hanna, Mandel, Hagit, Baris Feldman

المصدر: Molecular Genetics and Metabolism Reports

مصطلحات موضوعية: Intra-familial variability, Iron‑sulfur clusters, NFS1, Mitochondrial disease, Research Paper, Hot-spot variant

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::54525062c73b7b4371330eb7a84c4c87
https://pubmed.ncbi.nlm.nih.gov/33457206

المؤلفون: Adi Mory, Jeffrey Staples, Alina Kurolap, Hanna Mandel, Elena Dumin, Ann Saada, Karlla W. Brigatti, Claudia Gonzaga-Jauregui, Galit Tal, Tova Hershkovitz, Hagit Baris Feldman, Tamar Paperna

المصدر: Molecular Genetics and Metabolism Reports, Vol 26, Iss, Pp 100699-(2021)

مصطلحات موضوعية: Mitochondrial disease, Respiratory chain, NFS1, Biology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Genetics, medicine, Missense mutation, lcsh:QH301-705.5, Molecular Biology, Gene, Exome sequencing, lcsh:R5-920, 0303 health sciences, Intra-familial variability, 030305 genetics & heredity, Haplotype, medicine.disease, Phenotype, Hot-spot variant, Mitochondrial respiratory chain, lcsh:Biology (General), Iron‑sulfur clusters, lcsh:Medicine (General), 030217 neurology & neurosurgery

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d047679420c88774de78e9c80e27254d
https://doi.org/10.1016/j.ymgmr.2020.100699

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المؤلفون: Hershkovitz T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Kurolap A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel., Tal G; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Paperna T; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Mory A; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Staples J; Regeneron Genetics Center, Tarrytown, NY, USA., Brigatti KW; Clinic for Special Children, Strasburg, PA, USA., Gonzaga-Jauregui C; Regeneron Genetics Center, Tarrytown, NY, USA., Dumin E; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.; Department of Clinical Biochemistry, Rambam Health Care Campus, Haifa, Israel., Saada A; Department of Genetics, Hadassah Medical Center and The Faculty of Medicine, Hebrew University, Jerusalem, Israel., Mandel H; Metabolic Unit, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa, Israel., Baris Feldman H; The Genetics Institute, Rambam Health Care Campus, Haifa, Israel.; The Ruth and Bruce Rappaport Faculty of Medicine, Technion - Israel Institute of Technology, Haifa, Israel.

مؤلفون مشاركون: Regeneron Genetics Center

المصدر: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2020 Dec 30; Vol. 26, pp. 100699. Date of Electronic Publication: 2020 Dec 30 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101624422 Publication Model: eCollection Cited Medium: Print ISSN: 2214-4269 (Print) Linking ISSN: 22144269 NLM ISO Abbreviation: Mol Genet Metab Rep Subsets: PubMed not MEDLINE