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Looking beyond the exome: a phenotype-first approach to mol..:
Pena, Loren
;
Jiang, Yong-Hui
;
Schoch, Kelly
...
qt1hv4b4w0. , 2018
Link:
https://escholarship.org/uc/item/1hv4b4w0
RT Journal T1
Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases
UL https://suche.suub.uni-bremen.de/peid=base-ftcdlib:oai:escholarship.org:ark:_13030_qt1hv4b4w0&Exemplar=1&LAN=DE A1 Pena, Loren A1 Jiang, Yong-Hui A1 Schoch, Kelly A1 Spillmann, Rebecca A1 Walley, Nicole A1 Stong, Nicholas A1 Rapisardo Horn, Sarah A1 Sullivan, Jennifer A1 McConkie-Rosell, Allyn A1 Kansagra, Sujay A1 Smith, Edward A1 El-Dairi, Mays A1 Bellet, Jane A1 Keels, Martha A1 Jasien, Joan A1 Kranz, Peter A1 Noel, Richard A1 Nagaraj, Shashi A1 Lark, Robert A1 Wechsler, Daniel A1 Del Gaudio, Daniela A1 Leung, Marco A1 Hendon, Laura A1 Parker, Collette A1 Jones, Kelly A1 Goldstein, David A1 Shashi, Vandana PB eScholarship, University of California YR 2018 K1 Alleles K1 Biopsy K1 Child K1 Preschool K1 Exome K1 Female K1 Genetic Association Studies K1 Genetic Diseases K1 Inborn K1 Genetic Predisposition to Disease K1 Genotype K1 Humans K1 Infant K1 Molecular Diagnostic Techniques K1 Phenotype K1 Polymorphism K1 Single Nucleotide K1 Rare Diseases K1 Exome Sequencing K1 Whole Genome Sequencing JF qt1hv4b4w0 LK http://dx.doi.org/https://escholarship.org/uc/item/1hv4b4w0 DO https://escholarship.org/uc/item/1hv4b4w0 SF ELIB - SuUB Bremen
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