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Human Reproduction (Oxford, England)|June 1, 2018
Mutation-specific effects in germline transmission of pathogenic mtDNA variantsAuke B C Otten, Suzanne C E H Sallevelt, Phillippa J Carling, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 15, 2018
Frequency and signature of somatic variants in 1461 human brain exomesWei Wei, Michael J Keogh, Juvid Aryaman, et al.Plos Genetics|June 6, 2014
Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNAJohn W Yarham, Tek N Lamichhane, Angela Pyle, et al.Human Molecular Genetics|January 8, 2016
Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckIan J Wilson, Phillipa J Carling, Charlotte L Alston, et al.Stem Cells (Dayton, Ohio)|November 29, 2019
Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryosLaila Noli, Shirin E Khorsandi, Angela Pyle, et al.Plos Genetics|March 8, 2017
Mutations in mitochondrial DNA causing tubulointerstitial kidney diseaseThomas M Connor, Simon Hoer, Andrew Mallett, et al.Brain : a Journal of Neurology|December 28, 2010
A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophyDebbie Hicks, Anna Sarkozy, Nuria Muelas, et al.Cell|February 24, 2023
Cell lineage-specific mitochondrial resilience during mammalian organogenesisStephen P Burr, Florian Klimm, Angelos Glynos, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 9, 2018
Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy-like diseaseVeronika Boczonadi, Martin S King, Anthony C Smith, et al.Journal of Neuromuscular Diseases|September 18, 2015
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the <i>C12orf65</i> GeneAngela Pyle, Venkateswaran Ramesh, Marina Bartsakoulia, et al.Pageof 37