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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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Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report
. 2020;   Crossref logo
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Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report
. 2020;   Crossref logo
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Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report
. 2020;   Crossref logo
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Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report
. 2020;   Crossref logo
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Targeted exome sequencing identified a novel USH2A mutation in a Chinese Usher syndrome family: a case report
. 2020;   Crossref logo
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VP16.19: Prenatal diagnosis of a case of Noonan syndrome with RAF1 gene mutation using clinical‐exome sequencing
Ultrasound in Obstetrics & Gynecology. 2021;58(S1):168-168   Crossref logo
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Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome Family
. 2020;   Crossref logo
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