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SCIENTIFIC REPORTS, ISSN 2045-2322, 10/2019, Volume 9, Issue 1, pp. 1 - 9
Journal Article
by Jacobs, Kevin B and Yeager, Meredith and Zhou, Weiyin and Wacholder, Sholom and Wang, Zhaoming and Rodriguez-Santiago, Benjamin and Hutchinson, Amy and Deng, Xiang and Liu, Chenwei and Horner, Marie-Josephe and Cullen, Michael and Epstein, Caroline G and Burdett, Laurie and Dean, Michael C and Chatterjee, Nilanjan and Sampson, Joshua and Chung, Charles C and Kovaks, Joseph and Gapstur, Susan M and Stevens, Victoria L and Teras, Lauren T and Gaudet, Mia M and Albanes, Demetrius and Weinstein, Stephanie J and Virtamo, Jarmo and Taylor, Philip R and Freedman, Neal D and Abnet, Christian C and Goldstein, Alisa M and Hu, Nan and Yu, Kai and Yuan, Jian-Min and Liao, Linda and Ding, Ti and Qiao, You-Lin and Gao, Yu-Tang and Koh, Woon-Puay and Xiang, Yong-Bing and Tang, Ze-Zhong and Fan, Jin-Hu and Aldrich, Melinda C and Amos, Christopher and Blot, William J and Bock, Cathryn H and Gillanders, Elizabeth M and Harris, Curtis C and Haiman, Christopher A and Henderson, Brian E and Kolonel, Laurence N and Le Marchand, Loic and McNeill, Lorna H and Rybicki, Benjamin A and Schwartz, Ann G and Signorello, Lisa B and Spitz, Margaret R and Wiencke, John K and Wrensch, Margaret and Wu, Xifeng and Zanetti, Krista A and Ziegler, Regina G and Figueroa, Jonine D and Garcia-Closas, Montserrat and Malats, Nuria and Marenne, Gaelle and Prokunina-Olsson, Ludmila and Baris, Dalsu and Schwenn, Molly and Johnson, Alison and Landi, Maria Teresa and Goldin, Lynn and Consonni, Dario and Bertazzi, Pier Alberto and Rotunno, Melissa and Rajaraman, Preetha and Andersson, Ulrika and Freeman, Laura E. Beane and Berg, Christine D and Buring, Julie E and Butler, Mary A and Carreon, Tania and Feychting, Maria and Ahlbom, Anders and Gaziano, J Michael and Giles, Graham G and Hallmans, Goran and Hankinson, Susan E and Hartge, Patricia and Henriksson, Roger and Inskip, Peter D and Johansen, Christoffer and Landgren, Annelie and McKean-Cowdin, Roberta and Michaud, Dominique S and Melin, Beatrice S and Peters, Ulrike and Ruder, Avima M and Sesso, Howard D and Severi, Gianluca and Shu, Xiao-Ou and Visvanathan, Kala and ... and Medicinska fakulteten and Institutionen för folkhälsa och klinisk medicin and Institutionen för strålningsvetenskaper and Näringsforskning and Onkologi and Umeå universitet
Nature Genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 651 - 658
Journal Article
PLoS Genetics, ISSN 1553-7390, 12/2013, Volume 9, Issue 12
  Mitochondrial oxidative phosphorylation (OXPHOS) is responsible for generating the majority of cellular ATP. Complex III (ubiquinol-cytochrome c... 
Proteins | Studies | Enzymes | Protein expression | Mitochondrial DNA | Biosynthesis | Mutation | Experiments | Patients | Deoxyribonucleic acid--DNA
Journal Article
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 02/2014, Volume 94, Issue 2, p. 209
  Leigh syndrome (LS) is a severe neurodegenerative disorder with characteristic bilateral lesions, typically in the brainstem and basal ganglia. It usually... 
Haplotypes | Proteins | Genotype & phenotype | Proteomics | Mutation | Neurological disorders
Journal Article
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by Wang, Zhaoming and Zhu, Bin and Zhang, Mingfeng and Parikh, Hemang and Jia, Jinping and Chung, Charles C and Sampson, Joshua N and Hoskins, Jason W and Hutchinson, Amy and Burdette, Laurie and Ibrahim, Abdisamad and Hautman, Christopher and Raj, Preethi S and Abnet, Christian C and Adjei, Andrew A and Ahlbom, Anders and Albanes, Demetrius and Allen, Naomi E and Ambrosone, Christine B and Aldrich, Melinda and Amiano, Pilar and Amos, Christopher and Andersson, Ulrika and Gerald Andriole, G.A and Andrulis, Irene L and Arici, Cecilia and Arslan, Alan A and Austin, Melissa A and Baris, Dalsu and Barkauskas, Donald A and Bassig, Bryan A and Freeman, Laura E. Beane and Berg, Christine D and Berndt, Sonja I and Bertazzi, Pier Alberto and Biritwum, Richard B and Black, Amanda and Blot, William and Boeing, Heiner and Boffetta, Paolo and Bolton, Kelly and Boutron-Ruault, Marie-Christine and Bracci, Paige M and Brennan, Paul and Brinton, Louise A and Brotzman, Michelle and Bueno-de-Mesquita, H. Bas and Buring, Julie E and Butler, Mary Ann and Cai, Qiuyin and Cancel-Tassin, Geraldine and Canzian, Federico and Cao, Guangwen and Caporaso, Neil E and Carrato, Alfredo and Carreon, Tania and Carta, Angela and Chang, Gee-Chen and Chang, I-Shou and Chang-Claude, Jenny and Che, Xu and Chen, Chien-Jen and Chen, Chih-Yi and Chen, Chung-Hsing and Chen, Constance and Chen, Kuan-Yu and Chen, Yuh-Min and Chokkalingam, Anand P and Chu, Lisa W and Clavel-Chapelon, Francoise and Colditz, Graham A and Colt, Joanne S and Conti, David and Cook, Michael B and Cortessis, Victoria K and Crawford, E. David and Cussenot, Olivier and Davis, Faith G and De Vivo, Immaculata and Deng, Xiang and Ding, Ti and Dinney, Colin P and Di Stefano, Anna Luisa and Diver, W. Ryan and Duell, Eric J and Elena, Joanne W and Fan, Jin-Hu and Feigelson, Heather Spencer and Feychting, Maria and Figueroa, Jonine D and Flanagan, Adrienne M and Fraumeni, Joseph F and Freedman, Neal D and Fridley, Brooke L and Fuchs, Charles S and Gago-Dominguez, Manuela and Gallinger, Steven and Gao, Yu-Tang and Gapstur, Susan M and Garcia-Closas, Montserrat and ... and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Umeå universitet and Institutionen för folkhälsa och klinisk medicin and Urologi och andrologi and Enheten för biobanksforskning and Kirurgi and Näringsforskning and Institutionen för kirurgisk och perioperativ vetenskap and Onkologi
Human Molecular Genetics, ISSN 0964-6906, 11/2014, Volume 23, Issue 24, pp. 6616 - 6633
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Plos Genetics, ISSN 1553-7404, 2013, Volume 9, Issue 12, p. e1004034
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Cell Metabolism, ISSN 1550-4131, 09/2011, Volume 14, Issue 3, pp. 428 - 434
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 09/2018, Volume 26, Issue 9, pp. 1319 - 1328
Next-generation sequencing (NGS) is increasingly being used in a clinical setting for the molecular diagnosis of patients with heterogeneous disorders, such as... 
Microencephaly | Magnetic resonance imaging | Nijmegen breakage syndrome | Immunodeficiency | Diagnosis | Leukoencephalopathy | Patients | Cancer | Genomic instability
Journal Article