A novel nonsense mutation of GPR143 gene in a Korean kindred with X-linked congenital nystagmus

Por Kim, Ungsoo Samuel, Cho, Eunhae, Kim, Hyon J.
Publicado no Int J Ophthalmol (2016)

The Spectrum of NF1 Mutations in Korean Patients with Neurofibromatosis Type 1

Por Jeong, Seon-Yong, Park, Sang-Jin, Kim, Hyon J.
Publicado em 2006

Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome

Por Kim, Nam Gil, Kim, Hyon J., Hwang, Jeong-Min
Publicado em 2011

A Case of Birt-Hogg-Dubé Syndrome

Por Kim, En Hyung, Jeong, Seon-Yong, Kim, Hyon J, Kim, You Chan
Publicado em 2008

Fragile X Syndrome in Korea: A Case Series and a Review of the Literature

Por Yim, Shin-Young, Jeon, Bo Hyun, Yang, Jung A, Kim, Hyon J.
Publicado em 2008

Loss of Y Chromosome in the Malignant Peripheral Nerve Sheet Tumor of a Patient with Neurofibromatosis Type 1

Por Jeong, Seon-Yong, Park, Sang-Jin, Lee, Su-Jin, Park, Ho-Jin, Kim, Hyon J.
Publicado em 2010

Distinct Regulation of the Anterior and Posterior myeloperoxidase Expression by Etv2 and Gata1 during Primitive Granulopoiesis in Zebrafish

Por Glenn, Nicole O., Schumacher, Jennifer A., Kim, Hyon J., Zhao, Emma J., Skerniskyte, Jurate, Sumanas, Saulius
Publicado em 2014

Wnt5 signaling in vertebrate pancreas development

Por Petryk Anna, Sumanas Saulius, Jessurun Jose, Schleiffarth Jack R, Kim Hyon J, Lin Shuo, Ekker Stephen C
Publicado em 2005-10-01

Wnt5 signaling in vertebrate pancreas development

Por Kim, Hyon J, Schleiffarth, Jack R, Jessurun, Jose, Sumanas, Saulius, Petryk, Anna, Lin, Shuo, Ekker, Stephen C
Publicado em 2005

Hereditary Palmoplantar Keratoderma and Deafness Resulting from Genetic Mutation of Connexin 26

Por Lee, Jae Yeol, In, Sung-Il, Kim, Hyon J, Jeong, Seon-Yong, Choung, Yun Hoon, Kim, You Chan
Publicado em 2010

Phenotypic Analysis of Korean Patients with Abnormal Chromosomal Microarray in Patients with Unexplained Developmental Delay/Intellectual Disability

Por Kim, Hyo Jeong, Park, Chang Il, Lim, Jae Woo, Lee, Gyung Min, Cho, Eunhae, Kim, Hyon J.
Publicado no Yonsei Med J (2018)

Identifying the KAT6B Mutation via Diagnostic Exome Sequencing to Diagnose Say-Barber-Biesecker-Young-Simpson Syndrome in Three Generations of a Family

Por Kim, Yong Rok, Park, Jong Bum, Lee, Yung Jin, Hong, Mi Jin, Kim, Hyeong Tae, Kim, Hyon J.
Publicado no Ann Rehabil Med (2017)

TAGLN expression is upregulated in NF1-associated malignant peripheral nerve sheath tumors by hypomethylation in its promoter and subpromoter regions

Por PARK, GUN-HOO, LEE, SU-JIN, YIM, HYUNE, HAN, JAE-HO, KIM, HYON J., SOHN, YOUNG-BAE, KO, JUNG MIN, JEONG, SEON-YONG
Publicado em 2014

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Por Cheon Chong, Kim Hyon J, Ko Jung-Min, Kang Hyun, Ryu Ran-Suk, Jung Eun, Park Sang-Jin, Hwang Sang-Hyun, Kang Ho-Young
Publicado em 2011-05-01

Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases

Por Park, Sang-Jin, Jung, Eun Hye, Ryu, Ran-Suk, Kang, Hyun Woong, Ko, Jung-Min, Kim, Hyon J, Cheon, Chong Kun, Hwang, Sang-Hyun, Kang, Ho-Young
Publicado em 2011

ACVR1(R206H) receptor mutation causes fibrodysplasia ossificans progressiva by imparting responsiveness to activin A

Por Hatsell, Sarah J., Idone, Vincent, Wolken, Dana M. Alessi, Huang, Lily, Kim, Hyon J., Wang, Lili, Wen, Xialing, Nannuru, Kalyan C., Jimenez, Johanna, Xie, Liqin, Das, Nanditha, Makhoul, Genevieve, Chernomorsky, Rostislav, D‘Ambrosio, David, Corpina, Richard A., Schoenherr, Christopher, Feeley, Kieran, Yu, Paul B., Yancopoulos, George D., Murphy, Andrew J., Economides, Aris N.
Publicado no Sci Transl Med (2015)