Kết quả tìm kiếm - Suomalainen, Anu
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Mouse models of mitochondrial DNA defects and their relevance for human disease Bằng Tyynismaa, Henna, Suomalainen, Anu
Được phát hành 2009Text -
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Mitochondria: In Sickness and in Health Bằng Nunnari, Jodi, Suomalainen, Anu
Được phát hành 2012Text -
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Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ Bằng Euro, Liliya, Farnum, Gregory A., Palin, Eino, Suomalainen, Anu, Kaguni, Laurie S.
Được phát hành 2011Text -
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Tissue- and cell-type–specific manifestations of heteroplasmic mtDNA 3243A>G mutation in human induced pluripotent stem cell-derived disease model Bằng Hämäläinen, Riikka H., Manninen, Tuula, Koivumäki, Hanna, Kislin, Mikhail, Otonkoski, Timo, Suomalainen, Anu
Được phát hành 2013Text -
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Absence of Hikeshi, a nuclear transporter for heat-shock protein HSP70, causes infantile hypomyelinating leukoencephalopathy Bằng Vasilescu, Catalina, Isohanni, Pirjo, Palomäki, Maarit, Pihko, Helena, Suomalainen, Anu, Carroll, Christopher J
Được phát hành 2017Text -
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Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling Bằng Goffart, Steffi, Cooper, Helen M., Tyynismaa, Henna, Wanrooij, Sjoerd, Suomalainen, Anu, Spelbrink, Johannes N.
Được phát hành 2009Text -
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A Heterozygous Truncating Mutation in RRM2B Causes Autosomal-Dominant Progressive External Ophthalmoplegia with Multiple mtDNA Deletions Bằng Tyynismaa, Henna, Ylikallio, Emil, Patel, Mehul, Molnar, Maria J., Haller, Ronald G., Suomalainen, Anu
Được phát hành 2009Text -
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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion Bằng Matilainen, Sanna, Isohanni, Pirjo, Euro, Liliya, Lönnqvist, Tuula, Pihko, Helena, Kivelä, Tero, Knuutila, Sakari, Suomalainen, Anu
Được phát hành 2015Text -
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Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion Bằng Matilainen, Sanna, Isohanni, Pirjo, Euro, Liliya, Lönnqvist, Tuula, Pihko, Helena, Kivelä, Tero, Knuutila, Sakari, Suomalainen, Anu
Được phát hành 2017Text -
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Disruption of the mouse Shmt2 gene confers embryonic anaemia via foetal liver-specific metabolomic disorders Bằng Tani, Haruna, Mito, Takayuki, Velagapudi, Vidya, Ishikawa, Kaori, Umehara, Moe, Nakada, Kazuto, Suomalainen, Anu, Hayashi, Jun-Ichi
Được phát hành 2019Text -
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Developmental and Pathological Changes in the Human Cardiac Muscle Mitochondrial DNA Organization, Replication and Copy Number Bằng Pohjoismäki, Jaakko L. O., Goffart, Steffi, Taylor, Robert W., Turnbull, Douglas M., Suomalainen, Anu, Jacobs, Howard T., Karhunen, Pekka J.
Được phát hành 2010Text -
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Overexpression of Twinkle-helicase protects cardiomyocytes from genotoxic stress caused by reactive oxygen species Bằng Pohjoismäki, Jaakko L. O., Williams, Siôn L., Boettger, Thomas, Goffart, Steffi, Kim, Johnny, Suomalainen, Anu, Moraes, Carlos T., Braun, Thomas
Được phát hành 2013Text