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European Journal of Medical Genetics|September 20, 2019
A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndromeViivi Nevanlinna, Svetlana Konovalova, Berten Ceulemans, et al.Plos Genetics|January 13, 2025
IP3 receptor depletion in a spontaneous canine model of Charcot-Marie-Tooth disease 1J with amelogenesis imperfectaMarjo K Hytönen, Julius Rönkkö, Sruthi Hundi, et al.Cell Calcium|July 23, 2023
Human IP3 receptor triple knockout stem cells remain pluripotent despite altered mitochondrial metabolismJulius Rönkkö, Yago Rodriguez, Tiina Rasila, et al.The Journal of Biological Chemistry|June 16, 2009
Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forksJaakko L O Pohjoismäki, Steffi Goffart, Henna Tyynismaa, et al.Journal of Medical Genetics|January 15, 2013
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathyChristopher J Carroll, Pirjo Isohanni, Rosanna Pöyhönen, et al.Proceedings of the National Academy of Sciences of the United States of America|July 18, 2023
Small mitochondrial protein NERCLIN regulates cardiolipin homeostasis and mitochondrial ultrastructureSvetlana Konovalova, Rubén Torregrosa-Muñumer, Pooja Manjunath, et al.Frontiers in Genetics|February 24, 2015
Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylationLiliya Euro, Svetlana Konovalova, Jorge Asin-Cayuela, et al.Genome Biology|September 30, 2011
Comparison of solution-based exome capture methods for next generation sequencingAnna-Maija Sulonen, Pekka Ellonen, Henrikki Almusa, et al.BMC Biology|May 13, 2022
Comparative whole-genome transcriptome analysis in renal cell populations reveals high tissue specificity of MAPK/ERK targets in embryonic kidneyKristen Kurtzeborn, Hyuk Nam Kwon, Vladislav Iaroshenko, et al.Journal of Neurology|December 6, 2018
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophyMarkus T Sainio, Salla Välipakka, Bruno Rinaldi, et al.Pageof 9