earticle

Cumulus and granulosa cell biomarkers: a good predictor for successful oocyte and embryo developmental competence in human in vitro fertilization

Yu, Eun Jeong, Lyu, Sang Woo

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.1-7

Treatment strategies targeting specific genetic etiologies in epilepsy

Kim, Hyo Jeong, Kang, Hoon-Chul

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.8-15

GLB1-related disorders: GM1 gangliosidosis and Morquio B disease

Cho, Sung Yoon, Jin, Dong-Kyu

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.16-23

Molecular characterization in chromosome 11p15.5 related imprinting disorders Beckwith-Wiedemann and Silver-Russell syndromes

Shin, Young-Lim

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.24-30

Clinical utility of chromosomal microarray analysis to detect copy number variants: Experience in a single tertiary hospital

Park, Hee Sue, Kim, Aryun, Shin, Kyeong Seob, Son, Bo Ra

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.31-37

Psychological effects and risk perception after genetic counseling

Shin, Sunghwan, Ryu, Mi Ra, Kwon, Won Kyung, Kim, Suhee, Jang, Ja-Hyun, Kim, Jong-Won

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.38-43

Case report of cerebral creatine deficiency syndrome with novel mutation of SLC6A8 gene in a male child in Bangladesh

Rahman, Muhammad Mizanur, Fatema, Kanij

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.44-47

The first Korean case of a newborn with 3p26 microdeletion and 5q35 microduplication inherited from paternal balanced translocation

Jang, Jin A, Sohn, Young Bae, Lee, Jang Hoon, Park, Moon Sung

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.48-54

West syndrome with hyperkinesia and cortical visual impairment: A case report of GRIN1 encephalopathy

Choi, Seul A, Kim, Young Ok

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.55-59

Identification of a likely pathogenic variant of YY1 in a patient with developmental delay

Bae, Soyoung, Yang, Aram, Ahn, Ja-Hye, Kim, Jinsup, Park, Hyun Kyung

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.60-63

A case of TBC1D32-related ciliopathy with novel compound heterozygous variants

Ahn, Ji Ye, Kim, Soo Yeon, Lim, Byung Chan, Kim, Ki Joong, Chae, Jong Hee

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.64-69

Cohen-Gibson syndrome in a family: The first familial case report

Kang, Yeo Jin, Kim, Young Ok

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.1 2021 pp.70-74