Han JY - Search Results

1

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Han JY, Jang JH, Park J, Lee IG. Han JY, et al. Front Pediatr. 2018 Dec 17;6:391. doi: 10.3389/fped.2018.00391. eCollection 2018. Front Pediatr. 2018. PMID: 30631761 Free PMC article.

2

A twin sibling with Prader-Willi syndrome caused by type 2 microdeletion following assisted reproductive technology: A case report.

Han JY, Park J, Jang W, Chae H, Kim M, Kim Y. Han JY, et al. Biomed Rep. 2016 Jul;5(1):18-22. doi: 10.3892/br.2016.675. Epub 2016 May 12. Biomed Rep. 2016. PMID: 27330749 Free PMC article.

3

Identification of a novel de novo nonsense mutation of the NSD1 gene in monozygotic twins discordant for Sotos syndrome.

Han JY, Lee IG, Jang W, Shin S, Park J, Kim M. Han JY, et al. Clin Chim Acta. 2017 Jul;470:31-35. doi: 10.1016/j.cca.2017.04.025. Epub 2017 Apr 27. Clin Chim Acta. 2017. PMID: 28457852

4

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing.

Han JY, Lee IG, Shin S, Kim M, Jang JH, Park J. Han JY, et al. Eur J Med Genet. 2017 Oct;60(10):499-503. doi: 10.1016/j.ejmg.2017.07.002. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687527

5

Diagnostic exome sequencing identifies a heterozygous MBD5 frameshift mutation in a family with intellectual disability and epilepsy.

Han JY, Lee IG, Jang W, Kim M, Kim Y, Jang JH, Park J. Han JY, et al. Eur J Med Genet. 2017 Oct;60(10):559-564. doi: 10.1016/j.ejmg.2017.08.003. Epub 2017 Aug 12. Eur J Med Genet. 2017. PMID: 28807762

6

Elevated serum lipoprotein(a) as a risk factor for combined intracranial and extracranial artery stenosis in a child with arterial ischemic stroke: A case report.

Han JY, Kim HJ, Shin S, Park J, Lee IG. Han JY, et al. Medicine (Baltimore). 2017 Dec;96(49):e9025. doi: 10.1097/MD.0000000000009025. Medicine (Baltimore). 2017. PMID: 29245288 Free PMC article.

7

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.

Han JY, Jang JH, Lee IG, Shin S, Park J. Han JY, et al. Ann Clin Lab Sci. 2017 Nov;47(6):747-753. Ann Clin Lab Sci. 2017. PMID: 29263050

8

Efficacy of levetiracetam for neonatal seizures in preterm infants.

Han JY, Moon CJ, Youn YA, Sung IK, Lee IG. Han JY, et al. BMC Pediatr. 2018 Apr 10;18(1):131. doi: 10.1186/s12887-018-1103-1. BMC Pediatr. 2018. PMID: 29636029 Free PMC article.

9

Primary headaches in children and adolescents - experiences at a single headache center in Korea.

Jeong YJ, Lee YT, Lee IG, Han JY. Jeong YJ, et al. Among authors: han jy. BMC Neurol. 2018 May 21;18(1):70. doi: 10.1186/s12883-018-1073-9. BMC Neurol. 2018. PMID: 29783930 Free PMC article.

10

Neuropathy, Ataxia, Retinitis Pigmentosa-like Phenotype Associated with a Mitochondrial G8363A Mutation in a Family.

Kim S, Han J, Kim HA, Lim BC, Seo JE, Choi M, Kim KJ, Lee IG, Chae JH. Kim S, et al. Ann Clin Lab Sci. 2018 Jul;48(4):546-548. Ann Clin Lab Sci. 2018. PMID: 30143501 No abstract available.

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