Ngā hua rapu - Monica Penon‐Portmann
- E whakaatu ana i te 1 - 3 hua o te 3
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1
Current and new therapies for mucopolysaccharidoses mā Monica Penon‐Portmann, David Blair, Paul Harmatz
I whakaputaina 2022Revisão -
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3
Application of full-genome analysis to diagnose rare monogenic disorders mā Joseph T.C. Shieh, Monica Penon‐Portmann, K. Wong, Michal Levy‐Sakin, Michelle Verghese, Anne Slavotinek, Renata C. Gallagher, Bryce A. Mendelsohn, Jessica Tenney, Daniah Beleford, Hazel Perry, Stephen K. Chow, Andrew G. Sharo, Steven E. Brenner, Zhongxia Qi, Jingwei Yu, Ophir D. Klein, David I. K. Martin, Pui‐Yan Kwok, Dario Boffelli
I whakaputaina 2021Artigo
Ngā utauta rapu:
Ngā marau whai pānga
Biology
Gene
Genetics
Medicine
Biochemistry
Bioinformatics
Breakpoint
Chromosome
Computational biology
DNA sequencing
Disease
Distribution (mathematics)
Economics
Enzyme replacement therapy
Exome
Exome sequencing
Gene family
Genetic enhancement
Genome
Gerontology
Hematopoietic stem cell transplantation
Human genetics
Intensive care medicine
Internal medicine
Law
Lysosomal storage disorders
Management science
Mathematical analysis
Mathematics
Medical genetics