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1 Ergebnisse
1
Diagnostic utility of transcriptome sequencing for rare Men..:
Lee, Hane
;
Huang, Alden Y
;
Wang, Lee-Kai
...
qt2ss4j2vw. , 2020
Link:
https://escholarship.org/uc/item/2ss4j2vw
RT Journal T1
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt2ss4j2vw&Exemplar=1&LAN=DE A1 Lee, Hane A1 Huang, Alden Y A1 Wang, Lee-Kai A1 Yoon, Amanda J A1 Renteria, Genecee A1 Eskin, Ascia A1 Signer, Rebecca H A1 Dorrani, Naghmeh A1 Nieves-Rodriguez, Shirley A1 Wan, Jijun A1 Douine, Emilie D A1 Woods, Jeremy D A1 Dell'Angelica, Esteban C A1 Fogel, Brent L A1 Martin, Martin G A1 Butte, Manish J A1 Parker, Neil H A1 Wang, Richard T A1 Shieh, Perry B A1 Wong, Derek A A1 Gallant, Natalie A1 Singh, Kathryn E A1 Tavyev Asher, Y Jane A1 Sinsheimer, Janet S A1 Krakow, Deborah A1 Loo, Sandra K A1 Allard, Patrick A1 Papp, Jeanette C A1 Undiagnosed Diseases Network A1 Palmer, Christina GS A1 Martinez-Agosto, Julian A A1 Nelson, Stanley F PB eScholarship, University of California YR 2020 K1 Undiagnosed Diseases Network K1 Humans K1 Genetic Diseases K1 Inborn K1 Rare Diseases K1 Sequence Analysis K1 DNA K1 Mutation K1 Genetic Testing K1 Pathology K1 Molecular K1 Transcriptome K1 Exome K1 Whole Genome Sequencing K1 RNA-Seq K1 Exome Sequencing K1 genome sequencing K1 molecular diagnosis K1 transcriptome sequencing K1 undiagnosed rare Mendelian diseases K1 Prevention K1 Human Genome K1 Genetics K1 Clinical Research K1 Aetiology K1 Detection K1 screening and diagnosis K1 4.1 Discovery and preclinical testing of markers and technologies K1 2.1 Biological and endogenous factors K1 Good Health and Well Being K1 Clinical Sciences K1 Genetics & Heredity JF qt2ss4j2vw LK http://dx.doi.org/https://escholarship.org/uc/item/2ss4j2vw DO https://escholarship.org/uc/item/2ss4j2vw SF ELIB - SuUB Bremen
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