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| An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing | |
| Jinsup Kim, Sung Yoon Cho, Aram Yang, Ja-Hyun Jang, Youngbin Choi, Ji-Eun Lee, Dong-Kyu Jin | |
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Ann Pediatr Endocrinol Metab. 2017;22(3):203-207. Published online September 28, 2017 DOI: https://doi.org/10.6065/apem.2017.22.3.203 |
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An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing Annals of Pediatric Endocrinology & Metabolism. 2017;22(3):203-207  Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing Clinical Case Reports. 2015;3(4):237-239 Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing Clinical Case Reports. 2018;6(8):1531-1534 The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing Korean Journal of Pediatrics. 2018;61(12):403-406 Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease BMC Medical Genetics. 2012;13(1): P181 – 1833 Atypical infantile onset Alexander disease masquerading as a mitochondrial disorder diagnosed by whole exome sequencing European Journal of Paediatric Neurology. 2013;17:S103 Whole exome sequencing in diagnostics of atypical hemolytic uremic syndrome Molecular Immunology. 2017;89:148-149 Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer Human Mutation. 2013;34(9):iv-iv Whole Exome Sequencing as a Tool for Autozygosity Mapping Human Mutation. 2012;34(1):vii-vii Targeted Exome Sequencing Integrated with Clinicopathological Information Reveals Novel and Rare Mutations in Atypical, Suspected and Unknown Cases of Alport Syndrome or Proteinuria PLoS ONE. 2013;8(10):e76360 |
