Journal of Genetic Medicine
Latest Publications

TOTAL DOCUMENTS

243
(FIVE YEARS 46)

H-INDEX

4
(FIVE YEARS 0)

Published By Korean Society Of Medical Genetics

2233-9108, 1226-1769
Latest Documents Most Cited Documents Contributed Authors Related Sources Related Keywords

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

2021 ◽  
Vol 18 (2) ◽  
pp. 105-109
Author(s):  
Ikhyun Lim ◽  
Sang Hee Park ◽  
Mi Ri Suh ◽  
Hyunseok Kwak ◽  
Wookyung Park ◽  
...  
Keyword(s):  
Cerebral Palsy ◽  
Case Report ◽  
Spastic Cerebral Palsy ◽  
Tetrasomy 18P

scholarly journals A female patient with Xp21 gene deletion syndrome

2021 ◽  
Vol 18 (2) ◽  
pp. 101-104
Author(s):  
Jungeun Kim ◽  
Hyunjoo Lee ◽  
Ji-Hoon Na ◽  
Young-Mock Lee
Keyword(s):  
Female Patient ◽  
Gene Deletion ◽  
Deletion Syndrome

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

2021 ◽  
Vol 18 (2) ◽  
pp. 132-136
Author(s):  
Min-Kyung So ◽  
Jungwon Huh ◽  
Hae Soon Kim
Keyword(s):  
Case Report ◽  
Maturity Onset Diabetes ◽  
Onset Diabetes

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

2021 ◽  
Vol 18 (2) ◽  
pp. 110-116
Author(s):  
Dong Jun Ha ◽  
Ji Sun Park ◽  
Woori Jang ◽  
Na-young Jung ◽  
Su Jin Kim ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
Review Of The Literature

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

2021 ◽  
Vol 18 (2) ◽  
pp. 147-151
Author(s):  
Ji Hye Shin ◽  
Han Hyuk Lim ◽  
Mi Hyeon Gang ◽  
Seon Young Kim ◽  
Shin-seung Yang ◽  
...  
Keyword(s):  
Case Report ◽  
Pathogenic Mutation

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

2021 ◽  
Vol 18 (2) ◽  
pp. 117-120
Author(s):  
Bo Ram Kim ◽  
Rina Kim ◽  
Angela Cho ◽  
Hye Sim Kang ◽  
Chul Min Park ◽  
...  
Keyword(s):  
Case Report ◽  
Prenatal Screening ◽  
Noninvasive Prenatal Screening ◽  
Prenatal Detection

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

2021 ◽  
Vol 18 (2) ◽  
pp. 137-141
Author(s):  
Hyejin Na ◽  
Sanghoon Lee ◽  
Young Ok Kim
Keyword(s):  
Ketogenic Diet ◽  
Focal Seizures
Load More ...
Sign in / Sign up

Export Citation Format

Share Document