Journal of Genetic Medicine
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243
(FIVE YEARS 63)

H-INDEX

4
(FIVE YEARS 2)

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 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

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

2021 ◽  
Vol 18 (2) ◽  
pp. 142-146
Author(s):  
Yoon Ha Lee ◽  
Yong Hyuk Jeon ◽  
Seon Hee Lim ◽  
Yo Han Ahn ◽  
Sang-Yun Lee ◽  
...  
Keyword(s):  
Case Report ◽  
Alagille Syndrome ◽  
Arterial Stenosis
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