Search Results - Chang-Seok Ki
- Showing 1 - 10 results of 10
-
1
mutations in identified by whole exome sequencing in 2 girls with Alport syndrome in Korea by Kyoung Hee Han, Jong Eun Park, Chang-Seok Ki
Published 2019Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
2
Pathogenic Variant (c.5630A>G; p.Asn1877Ser) Presenting with a Relatively Mild Phenotype by Eonah Kim, Chang-Seok Ki, Sohye Park, Kyung Yeon Lee
Published 2020Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
3
Autosomal dominant familial neurohypophyseal diabetes insipidus caused by a mutation in the arginine-vasopressin II gene in four generations of a Korean family by Myo-Jing Kim, Young-Eun Kim, Chang-Seok Ki, Jae-Ho Yoo
Published 2014Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
4
Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis by Jong Eun Park, Taeheon Lee, Kyeongsu Ha, Eun Hye Cho, Chang-Seok Ki
Published 2022Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
5
A case of type A insulin resistance syndrome in a 14-year-old adolescent girl without common clinical features by Na won Lee, Ji Eun Jeong, Young Hwan Kim, Chang Seok Ki, Jin Kyung Kim
Published 2023Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
6
Identification of a novel mutation in the gene in a patient with CHARGE syndrome by Yeonkyung Kim, Ho-Seok Lee, Jung-Seok Yu, Kangmo Ahn, Chang-Seok Ki, Jihyun Kim
Published 2014Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
7
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report by Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho, Dong-Kyu Jin
Published 2017Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
8
A novel gene mutation in a Korean patient with Kabuki syndrome by Soo Jin Kim, Sung Yoon Cho, Se Hyun Maeng, Young Bae Sohn, Su-Jin Kim, Chang-Seok Ki, Dong-Kyu Jin
Published 2013Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
9
First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review by Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Published 2022Call Number: Loading…Connect to this object online.
Located: Loading…
Book -
10
Identification of a novel mutation in a patient with pseudohypoparathyroidism type Ia by Ye Seung Lee, Hui Kwon Kim, Hye Rim Kim, Jong Yoon Lee, Joong Wan Choi, Eun Ju Bae, Phil Soo Oh, Won Il Park, Chang Seok Ki, Hong Jin Lee
Published 2014Call Number: Loading…Connect to this object online.
Located: Loading…
Book