임상적으로 진단된 다발성 골단이형성증 1례

김선자 ,  조성윤 ,  김진섭 외 6명

대한유전성대사질환학회지

2015 .01

Three Cases of Spondyloepiphyseal Dysplasia Tarda in One Korean Family

송영욱 ,  정상완 ,  강은하 외 2명

Yonsei Medical Journal

2016 .01

Etiologies and characteristics of children with chief complaint of short stature

송경철 ,  진송이 ,  권아름 외 4명

Annals of Pediatirc Endocrinology & Metabolism

2015 .01

Identification of a novel heterozygous mutation of ACAN in a Korean family with proportionate short stature

Kim ,  Yoo-Mi ,  Cheon 외 5명

Journal of genetic medicine

2018 .01

Deciphering short stature in children

Polido ,  i Nella ,  Casto 외 6명

Annals of Pediatirc Endocrinology & Metabolism

2020 .01

저신장 소아의 심리적 특성과 주의력 : 다기관, 환자-대조군 연구

김우진 ,  김성환 ,  최병무 외 12명

생물치료정신의학

2015 .10

Commentary on "Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience"

Jin Hye Young

Annals of Pediatirc Endocrinology & Metabolism

2024 .02

저신장 및 성장과 관련된 질적연구에 대한 체계적 문헌 고찰

김혜진 ,  임정태 ,  노민영 외 4명

대한한방소아과학회지

2019 .01

Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience

Kim Su Jin ,  Joo Eunyoung ,  Pa 외 3명

Annals of Pediatirc Endocrinology & Metabolism

2024 .02

한국에서 사용되는 법의인류학적 키 추정 방법에 대한 제언

정양승 ,  우은진

해부·생물인류학

2018 .12

Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature

Kim Tae Youp ,  Jang Kyung Mi ,  Keum Chang Won 외 2명

Annals of Pediatirc Endocrinology & Metabolism

2020 .01

Whole Exome Sequencing in a Korean Child with Joubert Syndrome-related Disorders

이종화 ,  오인경 ,  윤미진 외 1명

Laboratory Medicine Online

2017 .01

Detection of Rare Mutations in EGFR-ARMS-PCR-Negative Lung Adenocarcinoma by Sanger Sequencing

Chaoyue Liang ,  Zhuolin Wu ,  Xiaohong Gan 외 8명

Yonsei Medical Journal

2018 .01

유전자변형 동물을 활용한 연구

구옥재

한국실험동물학회 학술발표대회 논문집

2018 .01

Multiplex Ligation-dependent Probe Amplification Analysis Subsequent to Direct DNA Full Sequencing for Identifying ATP7B Mutations and Phenotype Correlations in Children with Wilson Disease

심정옥 ,  양혜란 ,  문진수 외 4명

Journal of Korean Medical Science

2018 .01

Association between Mutation and Expression of TP53 as a Potential Prognostic Marker of Triple-Negative Breast Cancer

김지연 ,  박경희 ,  정혜현 외 11명

Cancer Research and Treatment

2016 .01

Balanced assessment of growth disorders using clinical, endocrinological, and genetic approaches

Savage Ma ,  tin Oswald ,  Sto 외 1명

Annals of Pediatirc Endocrinology & Metabolism

2021 .12

유전자 편집에 근거한 유전자치료 연구의 윤리

전방욱

한국의료윤리학회지

2016 .03

Evaluation of craniofacial morphology in short-statured children: growth hormone deficiency versus idiopathic short stature

Ki Bong Kim ,  김은경 ,  장경미 외 2명

Journal of Yeungnam Medical Science

2021 .01

건강인 대상의 유전자검사에 대한 이해와 관련 국내 제도

Pa ,  k Kyung Sun ,  Kim Yoonjung 외 5명

Laboratory Medicine Online

2024 .07