Hyun Joo Lee (Hyunjoo Lee)

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 8

Top Venues

Yonsei medical journal

Children (Basel, Switzerland)

Clinical genetics

Indian journal of pediatrics

Yonsei University College of Medicine

This page only lists publications with an associated author ORCID identifier.

Affiliation History

Yonsei University College of Medicine Mar 01 2012

South Korea

Dr :: Pediatrics

Publications

Hyun Joo Lee, Ji-Hoon Na, Young Mock Lee
Cyclic Vomiting Syndrome as a New Phenotype of Ataxia-Telangiectasia Syndrome. Indian journal of pediatrics (2024)
Hui Jin Shin, Ji-Hoon Na, Hyun Joo Lee, Young Mock Lee
Nusinersen for Spinal Muscular Atrophy Type I with Chronic Respiratory Failure: A Retrospective Study in South Korea. Yonsei medical journal 64 (12) (2023)
Hyun Joo Lee, Ji-Hoon Na, Young-Mock Lee
Mitochondrial tRNA His mutation (m.12158A > G) associated with MELAS syndrome. Clinical genetics 101 (4) (2022)
Junwon Lee, Hyun Joo Lee, Young-Mock Lee, Helen J Kuht, Mervyn G Thomas, Sang Jin Kim, Seung-Tae Lee, Jinu Han
DYNC2H1 variants cause Leber congenital amaurosis without syndromic features. Clinical genetics 100 (1) (2021)
Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park
Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report. Children (Basel, Switzerland) 8 (4) (2021)
Ji Yoon Han, Hyun Joo Lee, Young-Mock Lee, Joonhong Park
Identification of Missense ADGRV1 Mutation as a Candidate Genetic Cause of Familial Febrile Seizure 4. Children (Basel, Switzerland) 7 (9) (2020)
Byuh Ree Kim, Jeong Ho Han, Jeong Eun Shin, Min Soo Park, Kook In Park, Ran Namgung, Hyun Joo Lee, Jin Sung Lee, Ho Seon Eun
Genitopatellar Syndrome Secondary to De Novo KAT6B Mutation: The First Genetically Confirmed Case in South Korea. Yonsei medical journal 60 (4) (2019)
Hyun Joo Lee, Joo Hee Lim, Jeong Eun Shin, Ho Seon Eun, Min Soo Park, Kook In Park, Ran Namgung, Jin Sung Lee
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates. Yonsei medical journal 60 (11) (2019)

Hyun Joo Lee.css-eqlu8i{font-size:small;padding-left:4px;} (Hyunjoo Lee)

Publication Activity (10 Years)

Top Topics

Top Venues

Hyun Joo Lee (Hyunjoo Lee)