Rezultati - Hung‐Chun Yu
- Showing 1 - 14 results of 14
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Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities od Anita M. Quintana, Hung‐Chun Yu, Alison Brebner, Mihaela Pupavac, Elizabeth A. Geiger, Abigail Watson, Victoria L. Castro, Warren Cheung, Shu‐Huang Chen, David Watkins, Tomi Pastinen, Flemming Skovby, Bruce Appel, David S. Rosenblatt, Tamim H. Shaikh
Izdano 2017Artigo -
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The human noncoding genome defined by genetic diversity od Julia di Iulio, István Bartha, Emily H. M. Wong, Hung‐Chun Yu, Victor Lavrenko, Dongchan Yang, Inkyung Jung, Michael Hicks, Naisha Shah, Ewen F. Kirkness, Martin M. Fabani, William Biggs, Bing Ren, J. Craig Venter, Amalio Telenti
Izdano 2018Carta -
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Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder od Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh
Izdano 2015Artigo -
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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1 od Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer, Alison Brebner, Anita M. Quintana, Nathan P. Achilly, Irini Manoli, Curtis R. Coughlin, Elizabeth A. Geiger, Una Schneck, David Watkins, Terttu Suormala, Johan L.K. Van Hove, Brian Fowler, Matthias R. Baumgartner, David S. Rosenblatt, Charles P. Venditti, Tamim H. Shaikh
Izdano 2013Artigo -
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An unsupervised learning approach to identify novel signatures of health and disease from multimodal data od Ilan Shomorony, Elizabeth T. Cirulli, Lei Huang, Lori Napier, Robyn Heister, Michael Hicks, Isaac Cohen, Hung‐Chun Yu, Christine Leon Swisher, Natalie M. Schenker-Ahmed, Weizhong Li, William Nelson, Pamila Brar, Andrew M. Kahn, Timothy D. Spector, C. Thomas Caskey, J. Craig Venter, David S. Karow, Ewen F. Kirkness, Naisha Shah
Izdano 2020Artigo -
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Mutations in PMPCB Encoding the Catalytic Subunit of the Mitochondrial Presequence Protease Cause Neurodegeneration in Early Childhood od F.‐Nora Vögtle, Björn Brändl, Austin Larson, Manuela Pendziwiat, Marisa W. Friederich, Susan M. White, Alice Basinger, Cansu Küçükköse, Hiltrud Muhle, Johanna Jähn, Oliver Keminer, Katherine L. Helbig, Carolyn Delto, Lisa Myketin, Dirk Mossmann, Nils Burger, Noriko Miyake, Audrey Burnett, Andreas van Baalen, Mark A. Lovell, Naomichi Matsumoto, Maie Walsh, Hung‐Chun Yu, Deepali N. Shinde, Ulrich Stephani, Johan L.K. Van Hove, Frank Müller, Ingo Helbig
Izdano 2018Artigo -
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Precision medicine screening using whole-genome sequencing and advanced imaging to identify disease risk in adults od Bradley A. Perkins, C. Thomas Caskey, Pamila Brar, Eric Dec, David S. Karow, Andrew M. Kahn, Ying‐Chen Claire Hou, Naisha Shah, Debbie Boeldt, Erin Coughlin, Gabby Hands, Victor Lavrenko, Hung‐Chun Yu, Andrea Procko, Julia Appis, Anders M. Dale, Lining Guo, Thomas J. Jönsson, Bryan M. Wittmann, István Bartha, Smriti Ramakrishnan, Axel Bernal, James Brewer, Suzanne Brewerton, William Biggs, Yaron Turpaz, J. Craig Venter
Izdano 2018Artigo -
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Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging od Ying‐Chen Claire Hou, Hung‐Chun Yu, Rick Martin, Elizabeth T. Cirulli, Natalie M. Schenker-Ahmed, Michael Hicks, Isaac Cohen, Thomas J. Jönsson, Robyn Heister, Lori Napier, Christine Leon Swisher, Saints Dominguez, Haibao Tang, Weizhong Li, Bradley A. Perkins, Jaime Barea, Christina Rybak, Emily Smith, Keegan Duchicela, Michael Doney, Pamila Brar, Nathaniel Hernandez, Ewen F. Kirkness, Andrew M. Kahn, J. Craig Venter, David S. Karow, C. Thomas Caskey
Izdano 2020Artigo
Iskalna orodja:
Sorodne teme
Biology
Gene
Genetics
Internal medicine
Medicine
Computational biology
Disease
Endocrinology
Mutation
Precision medicine
Bioinformatics
Cobalamin
Genome
Genomics
Metabolomics
Mitochondrion
Pathology
Personalized medicine
Vitamin B12
Whole genome sequencing
Allele
Allele frequency
Aminoacyl tRNA synthetase
Artificial intelligence
Biochemistry
Biomarker
Biomarker discovery
Comparative genomics
Computer science
Constraint (computer-aided design)