CrossRef Text and Data Mining
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The first Korean case with Floating-Harbor syndrome with a novel SRCAP mutation diagnosed by targeted exome sequencing
Eun Mi Choi, Dong Hyun Lee, Seok Jin Kang, Ye Jee Shim, Heung Sik Kim, Jun Sik Kim, Jong In Jeong, Jung-Sook Ha, Ja-Hyun Jang
Clin Exp Pediatr. 2018;61(12):403-406.   Published online September 16, 2018
DOI: https://doi.org/10.3345/kjp.2018.06289

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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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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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Targeted Exome Sequencing Identified a Novel USH2A Mutation in a Chinese Usher Syndrome Family
. 2020;   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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A de novo SRCAP mutation associated with Floating-Harbor syndrome
Current Opinion in Biotechnology. 2013;24:S100   Crossref logo
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Floating-Harbor syndrome: Presentation of the first Romanian patient with a SRCAP mutation and review of the literature
Balkan Journal of Medical Genetics. 2018;21(1):83-86   Crossref logo
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