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1 Ergebnisse
1
Recessive ciliopathy mutations in primary endocardial fibro..:
Zhao, Yan
;
Wang, Lee-kai
;
Eskin, Ascia
...
qt5kz0j003. , 2021
Link:
https://escholarship.org/uc/item/5kz0j003
RT Journal T1
Recessive ciliopathy mutations in primary endocardial fibroelastosis: a rare neonatal cardiomyopathy in a case of Alstrom syndrome
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt5kz0j003&Exemplar=1&LAN=DE A1 Zhao, Yan A1 Wang, Lee-kai A1 Eskin, Ascia A1 Kang, Xuedong A1 Fajardo, Viviana M A1 Mehta, Zubin A1 Pineles, Stacy A1 Schmidt, Ryan J A1 Nagiel, Aaron A1 Satou, Gary A1 Garg, Meena A1 Federman, Myke A1 Reardon, Leigh C A1 Lee, Steven L A1 Biniwale, Reshma A1 Grody, Wayne W A1 Halnon, Nancy A1 Khanlou, Negar A1 Quintero-Rivera, Fabiola A1 Alejos, Juan C A1 Nakano, Atsushi A1 Fishbein, Gregory A A1 Van Arsdell, Glen S A1 Nelson, Stanley F A1 Touma, Marlin PB eScholarship, University of California YR 2021 K1 Medicinal and Biomolecular Chemistry K1 Chemical Sciences K1 Genetics K1 Human Genome K1 Pediatric K1 Cardiovascular K1 Congenital Structural Anomalies K1 Biotechnology K1 Rare Diseases K1 Brain Disorders K1 Heart Disease K1 Aetiology K1 2.1 Biological and endogenous factors K1 Congenital K1 Good Health and Well Being K1 Alstrom Syndrome K1 Cardiomyopathies K1 Cell Cycle Proteins K1 Ciliopathies K1 Endocardial Fibroelastosis K1 Epithelial-Mesenchymal Transition K1 Female K1 Fibroblasts K1 Humans K1 Infant K1 Mutation K1 Myocardium K1 Phenotype K1 RNA-Seq K1 Transcriptome K1 Primary endocardial fibroelastosis K1 Neonatal cardiomyopathy K1 Exome sequencing K1 RNA sequencing K1 Fibrosis K1 Epithelial mesenchymal transition K1 Retinal dystrophy K1 Rare undiagnosed disease K1 Immunology JF qt5kz0j003 LK http://dx.doi.org/https://escholarship.org/uc/item/5kz0j003 DO https://escholarship.org/uc/item/5kz0j003 SF ELIB - SuUB Bremen
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