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Journal of Genetic Medicine 2021;18:75-151
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
The Journal of Genetic Medicine (ISO abbreviation: J Genet Med, JGM) is a peer reviewed and open-access journal of the Korean Society of Medical Genetics and Genomics, providing up-to-date information relevant to the professions of genetics and medicine....
Female Carriers of Duchenne Muscular Dystrophy
Yu Na Cho, and Young-Chul Choi
Received October 11, 2013; Accepted December 20, 2013.
Three cases of rare SRY-negative 46,XX testicular disorder of sexual development with complete masculinization and a review of the literature
Bom Yi Lee, Shin Young Lee, Yeon Woo Lee, Shin Young Kim, Jin Woo Kim, Hyun Mee Ryu, Joong Shik Lee, So Yeon Park, and Ju Tae Seo
Received May 23, 2016; Accepted August 16, 2016.
Variable expression observed in a Korean family with Townes-Brocks syndrome caused by a SALL1 mutation
Yeon Jeong Seo, Ko Eun Lee, Jung Min Ko, Gu-Hwan Kim, and Han-Wook Yoo
Received June 1, 2015; Accepted June 10, 2015.