| Review Articles |
|
Progress, challenges, and future perspectives in genetic researches of stuttering
|
| Changsoo Kang |
|
Journal of Genetic Medicine 2021;18:75-82 |
|
|
Analyzing clinical and genetic aspects of axonal Charcot–Marie-Tooth disease
|
| Hye Mi Kwon and Byung-Ok Choi |
|
Journal of Genetic Medicine 2021;18:83-93 |
|
|
Medical genomic approach to early-onset scoliosis
|
| Shin-Young Yim |
|
Journal of Genetic Medicine 2021;18:94-100 |
|
|
| Case Reports |
|
A female patient with Xp21 gene deletion syndrome
|
| Jungeun Kim, Hyunjoo Lee, Ji-Hoon Na, and Young-Mock Lee |
|
Journal of Genetic Medicine 2021;18:101-104 |
|
|
Pediatric tetrasomy 18p presenting as a spastic cerebral palsy: A case report
|
| Ikhyun Lim, Sang Hee Park, Mi Ri Suh, Hyunseok Kwak, Wookyung Park, Sung Han Shim, and MinYoung Kim |
|
Journal of Genetic Medicine 2021;18:105-109 |
|
|
A case of follow-up of a patient with 22q11.2 distal deletion syndrome and a review of the literature
|
| Dong Jun Ha, Ji Sun Park, Woori Jang, Na-young Jung, Su Jin Kim, Yeonsook Moon, and Jieun Lee |
|
Journal of Genetic Medicine 2021;18:110-116 |
|
|
Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report
|
| Bo Ram Kim, Rina Kim, Angela Cho, Hye Sim Kang, Chul Min Park, Sung Yob Kim, and Soon Sup Shim |
|
Journal of Genetic Medicine 2021;18:117-120 |
|
|
Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling
|
| Hussein Algahtani, Bader Shirah, Khalid Alsaggaf, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer, and Ahmad R. Abuzinadah |
|
Journal of Genetic Medicine 2021;18:121-126 |
|
|
Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14
|
| Ae Ryoung Kim, Jong-Mok Lee, Go Hun Seo, Sang In Lee, Hyunwoo Bae, and Yun Jeong Lee |
|
Journal of Genetic Medicine 2021;18:127-131 |
|
|
A rare, likely pathogenic GCK variant related to maturity-onset diabetes of the young type 2: A case report
|
| Min-Kyung So, Jungwon Huh, and Hae Soon Kim |
|
Journal of Genetic Medicine 2021;18:132-136 |
|
|
Effective ketogenic diet in CACNA1A-related ‘epilepsy of infancy with migrating focal seizures’
|
| Hyejin Na, Sanghoon Lee, and Young Ok Kim |
|
Journal of Genetic Medicine 2021;18:137-141 |
|
|
A patient with multiple arterial stenosis diagnosed with Alagille syndrome: A case report
|
| Yoon Ha Lee, Yong Hyuk Jeon, Seon Hee Lim, Yo Han Ahn, Sang-Yun Lee, Jung min Ko, II-Soo Ha, and Hee Gyung Kang |
|
Journal of Genetic Medicine 2021;18:142-146 |
|
|
A neonate with Say–Barber–Biesecker–Young–Simpson syndrome with a novel pathogenic mutation in KAT6B gene: A case report
|
| Ji Hye Shin, Han Hyuk Lim, Mi Hyeon Gang, Seon Young Kim, Shin-seung Yang, and Mea-young Chang |
|
Journal of Genetic Medicine 2021;18:147-151 |
|
Journal of Genetic Medicine 2021;18:75-151
