المؤلفون: David Coman, Minal Menezes, Louisa Adams, Shanti Balasubramaniam, Carolyn M. Sue, Carolyn Ellaway, Lisa G. Riley, Mark J. Cowley, David R. Thorburn, Clare Puttick, Rocio Rius, André E. Minoche, Maina P. Kava, Velimir Gayevskiy, Ian E. Alexander, Jacqui Robinson, Kaustuv Bhattacharya, John Christodoulou, Alison G. Compton

المصدر: Genetics in Medicine. 22:1254-1261

مصطلحات موضوعية: Genetics, Mitochondrial DNA, Genetic heterogeneity, business.industry, Mitochondrial disease, Respiratory chain, medicine.disease, Genome, DNA sequencing, medicine, Indel, business, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::54a2fbb1c88badb96f645e7aa52037d5Test
https://doi.org/10.1038/s41436-020-0793-6Test

المؤلفون: Andre E. Minoche, Maina P. Kava, Alison G. Compton, David Coman, Mark J. Cowley, John Christodoulou, AnneMarie E. Welch, Rocio Rius, David R. Thorburn, Naomi L. Baker

المصدر: Genes, Vol 12, Iss 607, p 607 (2021)
Genes
Volume 12
Issue 4

مصطلحات موضوعية: 0301 basic medicine, Male, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Mitochondrial disease, respiratory chain, Respiratory chain, Computational biology, Biology, QH426-470, Genome, Article, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, medicine, Genetics, Humans, Genetic Predisposition to Disease, heteroplasmy, Genetics (clinical), Whole genome sequencing, Whole Genome Sequencing, Genetic Variation, High-Throughput Nucleotide Sequencing, DNA, medicine.disease, Heteroplasmy, mitochondria, genome sequencing, 030104 developmental biology, Early Diagnosis, Child, Preschool, Human genome, Female, mutation, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a4687657aa249fd3b8f8f14278c184fTest
https://www.mdpi.com/2073-4425/12/4/607Test

المؤلفون: Flora Y. Wong, Nicole J. Lake, Michael T. Ryan, Anne Marie E. Welch, Kazuhiro R. Nitta, Sarah E. Calvo, Yoshihito Kishita, Daniella H Hock, David A. Stroud, Simone Tregoning, Gareth Baynam, Michael Rodriguez, André E. Minoche, Susan Arbuckle, Kaustuv Bhattacharya, Yasushi Okazaki, David J. Amor, Akira Ohtake, George McGillivray, John Christodoulou, R. Jeroen Vermeulen, Mary Louise Freckmann, Atsuko Imai-Okazaki, Shanti Balasubramaniam, Carolyn Ellaway, Luke E. Formosa, David R. Thorburn, Marjo S van der Knaap, Alison G. Compton, Rocio Rius, Janice M. Fletcher, Mark J. Cowley, Cas Simons, Ann E. Frazier, Kei Murayama, Alexis Lucattini, Ryan J. Taft, Barry Lewis, David Francis, Simon Sadedin, Sumudu S.C. Amarasekera, Jafar S. Jabbari, Vamsi K. Mootha, Min Wang, Esko Wiltshire

المساهمون: Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Pediatric surgery, Functional Genomics, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9), RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience

المصدر: Frazier, A E, Compton, A G, Kishita, Y, Hock, D H, Welch, A M E, Amarasekera, S S C, Rius, R, Formosa, L E, Imai-Okazaki, A, Francis, D, Wang, M, Lake, N J, Tregoning, S, Jabbari, J S, Lucattini, A, Nitta, K R, Ohtake, A, Murayama, K, Amor, D J, McGillivray, G, Wong, F Y, van der Knaap, M S, Vermeulen, R J, Wiltshire, E J, Fletcher, J M, Lewis, B, Baynam, G, Ellaway, C, Balasubramaniam, S, Bhattacharya, K, Freckmann, M L, Arbuckle, S, Rodriguez, M, Taft, R J, Sadedin, S, Cowley, M J, Minoche, A E, Calvo, S E, Mootha, V K, Ryan, M T, Okazaki, Y, Stroud, D A, Simons, C, Christodoulou, J & Thorburn, D R 2021, ' Fatal Perinatal Mitochondrial Cardiac Failure Caused by Recurrent De Novo Duplications in the ATAD3 Locus ', Med, vol. 2, no. 1, pp. 49-73.e10 . https://doi.org/10.1016/j.medj.2020.06.004Test
Med, 2(1), 49-73.e10. Cell Press

مصطلحات موضوعية: quantitative proteomics, COMPUTATIONAL PLATFORM, Translation to Patients, Mitochondrial disease, Pontocerebellar hypoplasia, segmental duplication, Locus (genetics), Biology, HIGH-THROUGHPUT, Genome, GENOMIC DISORDERS, SDG 3 - Good Health and Well-being, medicine, de novo duplication, genomics, Copy-number variation, COPY-NUMBER VARIANTS, ATAD3, Exome sequencing, Segmental duplication, Genetics, ARCHITECTURE, MEMBRANE-PROTEIN, MUTATIONS, CHOLESTEROL, General Medicine, DNA, medicine.disease, COMPLEX I DEFICIENCY, mitochondrial disease, perinatal death, Human genome, cardiomyopathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b50f10f2b85c45465523a075c89ba3ffTest
https://research.vumc.nl/en/publications/1832e9e2-32f9-4c73-848a-8df349686c9dTest