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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
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   Crossref logo
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Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing
Clinical Case Reports. 2015;3(4):237-239   Crossref logo
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Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing
Clinical Case Reports. 2018;6(8):1531-1534   Crossref logo
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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   Crossref logo
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Atypical case of Wolfram syndrome revealed through targeted exome sequencing in a patient with suspected mitochondrial disease
BMC Medical Genetics. 2012;13(1):   Crossref logo
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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   Crossref logo
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Targeted exome sequencing of unselected heavy-ion beam-irradiated populations reveals less-biased mutation characteristics in the rice genome
The Plant Journal. 2018;   Crossref logo
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Whole exome sequencing in diagnostics of atypical hemolytic uremic syndrome
Molecular Immunology. 2017;89:148-149   Crossref logo
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Whole Exome Sequencing as a Tool for Autozygosity Mapping
Human Mutation. 2012;34(1):vii-vii   Crossref logo
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Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer
Human Mutation. 2013;34(9):iv-iv   Crossref logo
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