Jinsup Kim

Jinsup Kim

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Jinsup Kim

Jinsup Kim

Publications by authors named "Jinsup Kim"

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18Publications

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First Korean Case of Renpenning Syndrome with Novel Mutation in Diagnosed by Targeted Exome Sequencing, and Literature Review.

Ann Clin Lab Sci 2018 Jul;48(4):522-527

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul.

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July 2018

Etiological trends in male central precocious puberty.

Ann Pediatr Endocrinol Metab 2018 Jun 20;23(2):75-80. Epub 2018 Jun 20.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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June 2018

De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.

Ann Pediatr Endocrinol Metab 2018 Jun 20;23(2):107-111. Epub 2018 Jun 20.

Department of Pediatrics, Kyungpook National University Hospital, School of Medicine, Kyungpook National University, Daegu, Korea.

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June 2018

HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.

BMC Med Genet 2017 10 26;18(1):121. Epub 2017 Oct 26.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Korea.

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October 2017

An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.

Ann Pediatr Endocrinol Metab 2017 Sep 28;22(3):203-207. Epub 2017 Sep 28.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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September 2017

Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing.

Clin Chim Acta 2017 Aug 13;471:191-195. Epub 2017 Jun 13.

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. Electronic address:

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August 2017

Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.

Orphanet J Rare Dis 2017 08 30;12(1):146. Epub 2017 Aug 30.

Department of Pediatics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, South Korea.

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August 2017

2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.

Ann Pediatr Endocrinol Metab 2017 Jun 28;22(2):129-132. Epub 2017 Jun 28.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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June 2017

Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.

Orphanet J Rare Dis 2017 01 17;12(1):11. Epub 2017 Jan 17.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

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January 2017

Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.

Orphanet J Rare Dis 2016 08 9;11(1):113. Epub 2016 Aug 9.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 06351, Republic of Korea.

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August 2016

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.

BMC Med Genet 2016 08 12;17(1):58. Epub 2016 Aug 12.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul, 135-710, Korea.

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August 2016

Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.

Ann Clin Lab Sci 2015 ;45(4):458-61

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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May 2016

First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.

Ann Clin Lab Sci 2016 May;46(3):302-7

Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

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May 2016

Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.

Mol Pharm 2015 Oct 21;12(10):3759-65. Epub 2015 Sep 21.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul, Republic of Korea.

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October 2015

Prognostic factors in children with extracranial germ cell tumors treated with cisplatin-based chemotherapy.

Korean J Pediatr 2015 Oct 21;58(10):386-91. Epub 2015 Oct 21.

Division of Pediatric Surgery, Department of Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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October 2015

Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases.

Ann Pediatr Endocrinol Metab 2015 Jun 30;20(2):106-9. Epub 2015 Jun 30.

Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

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June 2015

Fungal urinary tract infection in burn patients with long-term foley catheterization.

Korean J Urol 2011 Sep 28;52(9):626-31. Epub 2011 Sep 28.

Department of Urology, Hangang Sacred Heart Hospital, Hallym University College of Medicine, Seoul, Korea.

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September 2011