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1
المؤلفون: Ryan L. Davis, Kishore R. Kumar, Clare Puttick, Christina Liang, Kate E. Ahmad, Fabienne Edema-Hildebrand, Jin-Sung Park, Andre E. Minoche, Velimir Gayevskiy, Amali C. Mallawaarachchi, John Christodoulou, Deborah Schofield, Marcel E. Dinger, Mark J. Cowley, Carolyn M. Sue
المصدر: Neurology. 99:e730-e742
مصطلحات موضوعية: Adult, Mitochondrial Diseases, Whole Genome Sequencing, Australia, Humans, Genetic Testing, Neurology (clinical), Mitochondria
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::755223dc28cea5cff5f454ccaf64fb26Test
https://doi.org/10.1212/wnl.0000000000200745Test -
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المؤلفون: Smadar Kahana-Edwin, James Torpy, Lucy E. Cain, Anna Mullins, Geoffrey McCowage, Sarah E. Woodfield, Sanjeev A. Vasudevan, Dan P.T. Shea, Andre E Minoche, Sarah Kummerfeld, Leonard D. Goldstein, Jonathan Karpelowsky
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fc6fead0d64f60d29ff564abe6763047Test
https://doi.org/10.1101/2022.09.20.22279947Test -
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المؤلفون: Nathan W. Zammit, Paul E. Gray, Owen M. Siggs, Jin Yan Yap, Amanda Russell, Daniele Cultrone, Joanna Warren, Stacey N. Walters, Robert Brink, David Zahra, Deborah L. Burnett, Velimir Gayevskiy, Andre E. Minoche, John B. Ziegler, Maria E. Craig, Melanie Wong, Paul Benitez-Aguirre, Juliana Teo, Mark J. Cowley, Marcel E. Dinger, Stuart G. Tangye, Catherine Burke, Tri G. Phan, Christopher C. Goodnow, Shane T. Grey
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7578a43b8a1ded2a2635d1cf7fc5bbe6Test
https://doi.org/10.1101/2022.03.19.485004Test -
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المؤلفون: Cédric Le Caignec, Fiona Haslam McKenzie, Jozef Gecz, Erik C. Thorland, Michelle Ward, Sharron Townshend, Chris Troedson, Marybeth Hummel, Andre E. Minoche, Raman Kumar, Elizabeth E. Palmer, Rebecca Macintosh, Joris Andrieux, Mark J. Cowley, Olivier Pichon, Edwin P. Kirk, Anja Ravine, Bénédicte Demeer, Dale Wright, Marie Shaw, Ann M. E. Bye, Nicola Foulds, Lucinda Murray, Melanie Leffler, Rani Sachdev, Cassandra K. Runke, Renee Carroll, Bertrand Isidor, Urwah Nawaz, Michael Field, Salam Hadah Albarazi
المصدر: Am J Hum Genet
مصطلحات موضوعية: Male, Monocarboxylic Acid Transporters, Heterozygote, Adolescent, Ubiquitin-Protein Ligases, Gene Dosage, Mutation, Missense, Mothers, Nerve Tissue Proteins, Locus (genetics), Biology, Young Adult, X Chromosome Inactivation, Report, Intellectual Disability, Chromosome Duplication, Intellectual disability, Gene duplication, Genetics, medicine, Humans, Missense mutation, Child, Gene, Skewed X-inactivation, Genetics (clinical), X chromosome, Hemizygote, Symporters, Australia, Middle Aged, medicine.disease, Phenotype, Pedigree, Child, Preschool, Face, Female
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00f32c7a2dbf50567179c38d936df1ffTest
https://doi.org/10.1016/j.ajhg.2020.10.005Test -
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المؤلفون: Lisa J. Ewans, Andre E. Minoche, Deborah Schofield, Rupendra Shrestha, Clare Puttick, Ying Zhu, Alexander Drew, Velimir Gayevskiy, George Elakis, Corrina Walsh, Lesley C. Adès, Alison Colley, Carolyn Ellaway, Carey-Anne Evans, Mary-Louise Freckmann, Linda Goodwin, Anna Hackett, Benjamin Kamien, Edwin P. Kirk, Michelle Lipke, David Mowat, Elizabeth Palmer, Sulekha Rajagopalan, Anne Ronan, Rani Sachdev, William Stevenson, Anne Turner, Meredith Wilson, Lisa Worgan, Marie-Christine Morel-Kopp, Michael Field, Michael F. Buckley, Mark J. Cowley, Marcel E. Dinger, Tony Roscioli
المصدر: European journal of human genetics : EJHG. 30(10)
مصطلحات موضوعية: Base Sequence, Whole Genome Sequencing, Exome Sequencing, Genetics, Chromosome Mapping, Humans, Exome, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f6f9de4b9af8f6385a7da9953edaf85Test
https://pubmed.ncbi.nlm.nih.gov/35970915Test -
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المؤلفون: Lisa G, Riley, Mark J, Cowley, Velimir, Gayevskiy, Andre E, Minoche, Clare, Puttick, David R, Thorburn, Rocio, Rius, Alison G, Compton, Minal J, Menezes, Kaustuv, Bhattacharya, David, Coman, Carolyn, Ellaway, Ian E, Alexander, Louisa, Adams, Maina, Kava, Jacqui, Robinson, Carolyn M, Sue, Shanti, Balasubramaniam, John, Christodoulou
المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(7)
مصطلحات موضوعية: Mitochondrial Diseases, Genome, Mitochondrial, Mutation, Australia, Chromosome Mapping, Humans, Child, DNA, Mitochondrial
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::30fa89bd9eda8a67348bd79bd07e04deTest
https://pubmed.ncbi.nlm.nih.gov/32313153Test -
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المؤلفون: Jens Keilwagen, Zane Colaric, Daniel Enosi Tuipulotu, Olga Dudchenko, Robert A. Zammit, J. William O. Ballard, Matthew A. Field, Eva K. F. Chan, Ozren Bogdanovic, Kirston Barton, Martin A. Smith, Andre E. Minoche, Ruth J. Lyons, Timothy P. L. Smith, Benjamin D. Rosen, Richard Edwards, Arina D. Omer, Vanessa M. Hayes, Ksenia Skvortsova, Erez Lieberman Aiden
المصدر: GigaScience
مصطلحات موضوعية: AcademicSubjects/SCI02254, Sequence assembly, Health Informatics, Genomics, Biology, Chromosomes, canine hip dysplasia, 03 medical and health sciences, 0302 clinical medicine, Dogs, Hi-C, Gene duplication, media_common.cataloged_instance, Animals, Gene, 030304 developmental biology, media_common, DNA Zoo, Whole genome sequencing, 0303 health sciences, Genome, Contig, Whole Genome Sequencing, Research, Molecular Sequence Annotation, Sequence Analysis, DNA, de novo genome assembly, Computer Science Applications, Canis lupus familiaris, optical mapping, Evolutionary biology, long-read sequencing, AcademicSubjects/SCI00960, 030217 neurology & neurosurgery, Reference genome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31289f391c686820e6888910d4743bcfTest
https://pubmed.ncbi.nlm.nih.gov/32236524Test