The Evolutionary Chromosome Translocation 4;19 in Gorilla gorilla is Associated with Microduplication of the Chromosome Fragment Syntenic to Sequences Surrounding the Human Proxima...

Por Stankiewicz, Pawel, Park, Sung-Sup, Inoue, Ken, Lupski, James R.
Publicado em 2001

In a Model of Immunoglobulin Heavy-Chain (IGH)/MYC Translocation, the Igh 3′ Regulatory Region Induces MYC Expression at the Immature Stage of B Cell Development

Por Yan, Yi, Park, Sung Sup, Janz, Siegfried, Eckhardt, Laurel A.
Publicado em 2007

The G2019S LRRK2 Mutation is Rare in Korean Patients with Parkinson's Disease and Multiple System Atrophy

Por Cho, Jin-Whan, Kim, Sung-Yeon, Park, Sung-Sup, Jeon, Beom S.
Publicado em 2009

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency in Korean Infants

Por Ko, Jae Sung, Song, Jung Han, Park, Sung Sup, Seo, Jeong Kee
Publicado em 2007

Brain Imaging Studies in Leber's Congenital Amaurosis: New Radiologic Findings Associated with the Complex Trait

Por Yang, Hee Kyung, Hwang, Jeong-Min, Park, Sung Sup, Yu, Young Suk
Publicado em 2010

RFLP haplotypes of beta-globin gene complex of beta-thalassemic chromosomes in Koreans.

Por Lee, Young-Joon, Park, Sung Sup, Kim, Ji Yeon, Cho, Han-Ik
Publicado em 2002

First Korean Case of Mycobacterium arupense Tenosynovitis

Por Lee, Seung Jun, Hong, Sung Kuk, Park, Sung Sup, Kim, Eui-Chong
Publicado em 2014

False Homozygosity Results in HLA Genotyping due to Loss of Chromosome 6 in a Patient with Acute Lymphoblastic Leukemia

Por Park, Hyewon, Hyun, Jungwon, Park, Sung Sup, Park, Myoung Hee, Song, Eun Young
Publicado em 2011

Infantile Vitreous Hemorrhage as the Initial Presentation of X-linked Juvenile Retinoschisis

Por Lee, Jong Joo, Kim, Jeong Hun, Kim, So Yeon, Park, Sung Sup, Yu, Young Suk
Publicado em 2009

Leber's hereditary optic neuropathy with 3460 mitochondrial DNA mutation.

Por Hwang, Jeong-Min, Chang, Bong Leen, Koh, Hyoung Jun, Kim, Ji Yeon, Park, Sung Sup
Publicado em 2002

Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient

Por Park, Young Joo, Hwang, Duck Jin, Seong, Moon-Woo, Park, Sung Sup, Woo, Se Joon
Publicado no Korean J Ophthalmol (2016)

Clinical and ABCB11 profiles in Korean infants with progressive familial intrahepatic cholestasis

Por Park, Ji Sook, Ko, Jae Sung, Seo, Jeong Kee, Moon, Jin Soo, Park, Sung Sup
Publicado no World J Gastroenterol (2016)

The First Study on Nucleotide-level Identification of Hb Koriyama in a Patient with Severe Hemolytic Anemia

Por Park, Seungman, Park, Jun Eun, Cho, Sung Im, Jeon, Yongbum, Park, Sung Sup, Seong, Moon-Woo
Publicado em 2012

Reciprocal Crossovers and a Positional Preference for Strand Exchange in Recombination Events Resulting in Deletion or Duplication of Chromosome 17p11.2

Por Bi, Weimin, Park, Sung-Sup, Shaw, Christine J., Withers, Marjorie A., Patel, Pragna I., Lupski, James R.
Publicado em 2003

The First Korean Case of Lysinuric Protein Intolerance: Presented with Short Stature and Increased Somnolence

Por Ko, Jung Min, Shin, Choong Ho, Yang, Sei Won, Seong, Moon Woo, Park, Sung Sup, Song, Junghan
Publicado em 2012

Structure and Evolution of the Smith-Magenis Syndrome Repeat Gene Clusters, SMS-REPs

Por Park, Sung-Sup, Stankiewicz, Paweł, Bi, Weimin, Shaw, Christine, Lehoczky, Jessica, Dewar, Ken, Birren, Bruce, Lupski, James R.
Publicado em 2002

Molecular characterization of Leber congenital amaurosis in Koreans

Por Seong, Moon-Woo, Kim, Seong Yeon, Yu, Young Suk, Hwang, Jeong-Min, Kim, Ji Yeon, Park, Sung Sup
Publicado em 2008

A Novel Mutation of the TAZ Gene in Barth Syndrome: Acute Exacerbation after Contrast-Dye Injection

Por Kim, Gi Beom, Kwon, Bo Sang, Bae, Eun Jung, Noh, Chung Il, Seong, Moon-Woo, Park, Sung Sup
Publicado em 2013

Hereditary Spastic Paraplegia with a Novel SPAST Mutation Misdiagnosed with Subacute Combined Degeneration

Por Yang, Ji Won, Han, Ji-Young, Seong, Moon-Woo, Sung, Jung-Joon, Park, Sung Sup, Lee, Kwang-Woo
Publicado em 2013

First Case of Mycobacterium longobardum Infection

Por Hong, Sung Kuk, Sung, Ji Yeon, Lee, Hyuk Jin, Oh, Myung-Don, Park, Sung Sup, Kim, Eui-Chong
Publicado em 2013