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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
Korean J 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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A de novo SRCAP mutation associated with Floating-Harbor syndrome
Current Opinion in Biotechnology. 2013;24:S100   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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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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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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Whole exome sequencing identifies novel mutation in ANOS1 in siblings with Kallmann's syndrome
Fertility and Sterility. 2017;108(3):e296   Crossref logo
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Whole exome sequencing identifies a novel frameshift mutation in GPC3 gene in a patient with overgrowth syndrome
Gene. 2015;572(2):303-306   Crossref logo
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Prenatal diagnosis of X-linked myopathy associated with aVMA21gene mutation afforded through a novel targeted exome sequencing strategy applied in fetuses with abnormal ultrasound findings
Clinical Case Reports. 2017;5(3):308-311   Crossref logo
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Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing
Clinica Chimica Acta. 2017;471:191-195   Crossref logo
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