earticle

Progress, challenges, and future perspectives in genetic researches of stuttering

Kang, Changsoo

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.75-82

Analyzing clinical and genetic aspects of axonal Charcot-Marie-Tooth disease

Kwon, Hye Mi, Choi, Byung-Ok

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.83-93

Medical genomic approach to early-onset scoliosis

Yim, Shin-Young

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.94-100

A female patient with Xp21 gene deletion syndrome

Kim, Jungeun, Lee, Hyunjoo, Na, Ji-Hoon, Lee, Young-Mock

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.101-104

Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report

Lim, Ikhyun, Park, Sang Hee, Suh, Mi Ri, Kwak, Hyunseok, Park, Wookyung, Shim, Sung Han, Kim, MinYoung

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.105-109

A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature

Ha, Dong Jun, Park, Ji Sun, Jang, Woori, Jung, Na-young, Kim, Su Jin, Moon, Yeonsook, Lee, Jieun

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.110-116

Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report

Kim, Bo Ram, Kim, Rina, Cho, Angela, Kang, Hye Sim, Park, Chul Min, Kim, Sung Yob, Shim, Soon Sup

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.117-120

Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Algahtani, Hussein, Shirah, Bader, Alsaggaf, Khalid, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman, Naseer, Muhammad Imran, Abuzinadah, Ahmad R.

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.121-126

Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

Kim, Ae Ryoung, Lee, Jong-Mok, Seo, Go Hun, Lee, Sang In, Bae, Hyunwoo, Lee, Yun Jeong

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.127-131

A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report

So, Min-Kyung, Huh, Jungwon, Kim, Hae Soon

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.132-136

Effective ketogenic diet in CACNA1A-related 'epilepsy of infancy with migrating focal seizures'

Na, Hyejin, Lee, Sanghoon, Kim, Young Ok

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.137-141

A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report

Lee, Yoon Ha, Jeon, Yong Hyuk, Lim, Seon Hee, Ahn, Yo Han, Lee, Sang-Yun, Ko, Jung min, Ha, II-Soo, Kang, Hee Gyung

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.142-146

A neonate with Say-Barber-Biesecker-Young-Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report

Shin, Ji Hye, Lim, Han Hyuk, Gang, Mi Hyeon, Kim, Seon Young, Yang, Shin-seung, Chang, Mea-young

[Kisti 연계] 대한의학유전학회 Journal of genetic medicine Vol.18 No.2 2021 pp.147-151