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Looking beyond the exome: a phenotype-first approach to mol..:
Pena, Loren DM
;
Jiang, Yong-Hui
;
Schoch, Kelly
...
qt1jn52197. , 2018
Link:
https://escholarship.org/uc/item/1jn52197
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_qt1jn52197&Exemplar=1&LAN=DE A1 Pena, Loren DM A1 Jiang, Yong-Hui A1 Schoch, Kelly A1 Spillmann, Rebecca C A1 Walley, Nicole A1 Stong, Nicholas A1 Rapisardo Horn, Sarah A1 Sullivan, Jennifer A A1 McConkie-Rosell, Allyn A1 Kansagra, Sujay A1 Smith, Edward C A1 El-Dairi, Mays A1 Bellet, Jane A1 Keels, Martha Ann A1 Jasien, Joan A1 Kranz, Peter G A1 Noel, Richard A1 Nagaraj, Shashi K A1 Lark, Robert K A1 Wechsler, Daniel SG A1 del Gaudio, Daniela A1 Leung, Marco L A1 Hendon, Laura G A1 Parker, Collette C A1 Jones, Kelly L A1 Goldstein, David B A1 Shashi, Vandana PB eScholarship, University of California YR 2018 K1 Genetics K1 Pediatric K1 Human Genome K1 Clinical Research K1 Brain Disorders K1 2.1 Biological and endogenous factors K1 Aetiology K1 Good Health and Well Being 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 K1 infantile neuroaxonal dystrophy K1 infantile systemic hyalinosis K1 leukoencephalopathy with vanishing white matter K1 Undiagnosed Diseases Network K1 whole-exome sequencing K1 Undiagnosed Diseases Network Members K1 Clinical Sciences K1 Genetics & Heredity JF qt1jn52197 LK http://dx.doi.org/https://escholarship.org/uc/item/1jn52197 DO https://escholarship.org/uc/item/1jn52197 SF ELIB - SuUB Bremen
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