Works matching AU Jung Min Ko

Results: 118

A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.

Published in:

2009

By:

Jung Min Ko;
Chong-Kun Cheon;
Gu-Hwan Kim;
Han-Wook Yoo;
Ko, Jung Min;
Cheon, Chong-Kun;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

journal article

Force-activated separation devices: a preventive strategy for intravenous line disconnection in canine patients.

Published in:

Frontiers in Veterinary Science, 2025, p. 1, doi. 10.3389/fvets.2025.1547277

By:

Ko, Min-Jung;
Kim, Mu-Young

Publication type:

Article

Clinical outcomes of the implementation of acute care surgery system in South Korea: a multi‐centre, retrospective cohort study.

Published in:

ANZ Journal of Surgery, 2025, v. 95, n. 3, p. 416, doi. 10.1111/ans.19366

By:

Yi, Gun‐Hee;
Hong, Suk‐Kyung;
Jun, Yang‐Hee;
Yoo, Sungyeon;
Bae, Jung‐Min;
Yoo, Keesang;
Jung, Yun Tae;
Kim, EunYoung;
Lee, Narae;
Ko, Min Jung;
Shin, Hogyun;
Lee, Hak‐Jae

Publication type:

Article

Congenital central hypoventilation syndrome in korea: 20 years of clinical observation and evaluation of the ventilation strategy in a single center.

Published in:

European Journal of Pediatrics, 2024, v. 183, n. 8, p. 3479, doi. 10.1007/s00431-024-05611-6

By:

Lee, Min Jeong;
Park, Ji Soo;
Kim, Kyunghoon;
Ko, Jung Min;
Park, June Dong;
Suh, Dong In

Publication type:

Article

A case of a Korean newborn with IMAGe association presenting with hyperpigmented skin at birth.

Published in:

2007

By:

Jung Min Ko;
Jung Hyun Lee;
Gu-Hwan Kim;
Ai-Rhan Kim;
Han-Wook Yoo

Publication type:

Report

Use of big data for evidence-based healthcare.

Published in:

Journal of the Korean Medical Association / Taehan Uisa Hyophoe Chi, 2014, v. 57, n. 5, p. 413, doi. 10.5124/jkma.2014.57.5.413

By:

Min Jung Ko;
Tae-Hwan Lim

Publication type:

Article

Paternal Uniparental Disomy of the Entire Chromosome 20 in a Child with Beckwith-Wiedemann Syndrome.

Published in:

Genes, 2021, v. 12, n. 2, p. 172, doi. 10.3390/genes12020172

By:

Choufani, Sanaa;
Ko, Jung Min;
Lou, Youliang;
Shuman, Cheryl;
Fishman, Leona;
Weksberg, Rosanna;
Maher, Eamonn

Publication type:

Article

Challenges in endoscopic third ventriculostomy for patients with achondroplasia: a focus on third ventricle floor anatomy.

Published in:

Journal of Neurosurgery: Pediatrics, 2024, v. 34, n. 5, p. 462, doi. 10.3171/2024.6.PEDS2472

By:

Ji Yul Shin;
A. Hyeon Kim;
Jung Min Ko;
Tae-Joon Cho;
Seung-Ki Kim;
Ji Hoon Phi

Publication type:

Article

Cutaneous Skeletal Hypophosphatemia Syndrome in Association with a Mosaic HRAS Mutation.

Published in:

Annals of Clinical & Laboratory Science, 2018, v. 48, n. 5, p. 665

By:

Peong Gang Park;
Eujin Park;
Hye-Sun Hyun;
Hee Gyung Kang;
Il-Soo Ha;
Tae-Joon Cho;
Jung Min Ko;
Hae Il Cheong

Publication type:

Article

Korean Monozygotic Twins with Lethal Acantholytic Epidermolysis Bullosa Caused by Two Novel DSP Mutations.

Published in:

Annals of Clinical & Laboratory Science, 2017, v. 47, n. 2, p. 213

By:

Se Jin Kim;
Jung Min Ko;
Seung Han Shin;
Ee-Kyung Kim;
Han-Suk Kim;
Lee, Kyung-A.

Publication type:

Article

First Korean Patients with Craniofrontonasal Syndrome Confirmed by EFNB1 Analysis.

Published in:

Annals of Clinical & Laboratory Science, 2016, v. 46, n. 5, p. 544

By:

Hani Yoo;
Jung Min Ko;
Byung Chan Lim;
Hae Il Cheong

Publication type:

Article

Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.

Published in:

Annals of Clinical & Laboratory Science, 2016, v. 46, n. 4, p. 360

By:

Yoo-Mi Kim;
Chong-Kun Cheon;
Kyung-Hee Park;
Sung Won Park;
Gu-Hwan Kim;
Han-Wook Yoo;
Kyung-A Lee;
Jung Min Ko

Publication type:

Article

Rare Korean Cases of Very-long-chain Acyl-CoA Dehydrogenase Deficiency with a Novel Recurrent Mutation.

Published in:

Annals of Clinical & Laboratory Science, 2016, v. 46, n. 1, p. 97

By:

Jung Min Ko;
Jieun Seo;
Murim Choi;
Junghan Song;
Kyung-A Lee;
Choong Ho Shin

Publication type:

Article

A Novel NOTCH2 Mutation Identified in a Korean Family with Hajdu-Cheney Syndrome Showing Phenotypic Diversity.

Published in:

Annals of Clinical & Laboratory Science, 2015, v. 45, n. 1, p. 110

By:

Mi Seon Han;
Jung Min Ko;
Tae-Joon Cho;
Woong-Yang Park;
Hae Il Cheong

Publication type:

Article

First Identified Korean Family with Sotos Syndrome Caused by a Novel Intragenic Mutation in NSD1.

Published in:

Annals of Clinical & Laboratory Science, 2014, v. 44, n. 2, p. 228

By:

So Hyun Park;
Ji Eun Lee;
Young Bae Sohn;
Jung Min Ko

Publication type:

Article

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Published in:

2019

By:

Kim, Soo Yeon;
Lim, Byung Chan;
Kim, Woo Joong;
Kim, Hyuna;
Kim, Ki Joong;
Choi, Murim;
Chae, Jong-Hee;
Kim, Young Ok;
Kim, Jon Soo;
Kim, Won Seop;
Kwon, Young Se;
Park, June Dong;
Ahn, Younjhin;
Hwang, Joo-Yeon;
Park, Hyun-Young;
Lee, Youngha;
Lee, Jin Sook;
Ko, Jung Min;
Choi, Sun Ah;
Kim, Hunmin

Publication type:

journal article

A 3‐Month‐Old Boy With Progressive Weakness.

Published in:

2018

By:

Kim, Soo Yeon;
Ko, Jung Min;
Choi, Sun Ah;
Cho, Anna;
Lee, Jin Sook;
Lim, Byung Chan;
Kim, Ki Joong;
Chae, Jong‐Hee

Publication type:

Case Study

Accuracy of Digital Breast Tomosynthesis for Detecting Breast Cancer in the Diagnostic Setting: A Systematic Review and Meta-Analysis.

Published in:

Korean Journal of Radiology, 2021, v. 22, n. 8, p. 1240, doi. 10.3348/kjr.2020.1227

By:

Min Jung Ko;
Park, Dong A.;
Sung Hyun Kim;
Eun Sook Ko;
Kyung Hwan Shin;
Woosung Lim;
Beom Seok Kwak;
Jung Min Chang

Publication type:

Article

Gorham-Stout Syndrome with Focal Segmental Glomerulosclerosis: A Case Report.

Published in:

Childhood Kidney Diseases, 2020, v. 24, n. 2, p. 120, doi. 10.3339/jkspn.2020.24.2.120

By:

Ji Hyun Kim;
You Sun Kim;
Seon Hee Lim;
Yo Han Ahn;
Jung-Min Ko;
Dong In Suh;
Kyoung Bun Lee;
Kyung Chul Moon;
Il-Soo Ha;
Hae Il Cheong;
Hee Gyung Kang

Publication type:

Article

Biallelic novel mutations of the COL27A1 gene in a patient with Steel syndrome.

Published in:

2021

By:

Kim, Jong Seop;
Jeon, Hyoungseok;
Lee, Hyeran;
Ko, Jung Min;
Kim, Yonghwan;
Choi, Murim;
Nishimura, Gen;
Kim, Ok-Hwa;
Cho, Tae-Joon

Publication type:

Case Study

Combined lung and liver transplantation for noncirrhotic portal hypertension with severe hepatopulmonary syndrome in a patient with dyskeratosis congenita.

Published in:

Pediatric Transplantation, 2021, v. 25, n. 2, p. 1, doi. 10.1111/petr.13802

By:

Shin, Sohyun;
Suh, Dong In;
Ko, Jung Min;
Park, June Dong;
Lee, Jeong‐Moo;
Yi, Nam‐Joon;
Kim, Young Tae;
Park, Samina;
Lee, Seunghyun;
Koh, Jaemoon;
Choi, Yu Hyeon

Publication type:

Article

Importance of extracutaneous organ involvement in determining the clinical severity and prognosis of incontinentia pigmenti caused by mutations in the IKBKG gene.

Published in:

Experimental Dermatology, 2021, v. 30, n. 5, p. 676, doi. 10.1111/exd.14313

By:

Kim, Hwa Young;
Song, Hyun Beom;
Kim, Kyu Han;
Kim, Jeong Hun;
Chae, Jong‐Hee;
Kim, Man Jin;
Seong, Moon‐Woo;
Ko, Jung Min

Publication type:

Article

Lentigo maligna in a patient with xeroderma pigmentosum, variant type: A case report with dermoscopic findings and review of the literature.

Published in:

Photodermatology, Photoimmunology & Photomedicine, 2020, v. 36, n. 5, p. 401, doi. 10.1111/phpp.12568

By:

Bang, Eunsik;
Kim, Ye Eun;
Ko, Jung Min;
Kim, Man Jin;
Park, Sung Sup;
Seong, Moon‐Woo;
Mun, Je‐Ho

Publication type:

Article

Application of Pulsed Electric Field as a Pre-Treatment for Subcritical Water Extraction of Quercetin from Onion Skin.

Published in:

Foods, 2022, v. 11, n. 8, p. 1069, doi. 10.3390/foods11081069

By:

Kim, Han-Sol;
Ko, Min-Jung;
Park, Chan-Ho;
Chung, Myong-Soo

Publication type:

Article

Anthocyanin Structure and pH Dependent Extraction Characteristics from Blueberries (Vaccinium corymbosum) and Chokeberries (Aronia melanocarpa) in Subcritical Water State.

Published in:

Foods, 2021, v. 10, n. 3, p. 527, doi. 10.3390/foods10030527

By:

Kang, Hye-Ji;
Ko, Min-Jung;
Chung, Myong-Soo;
Genisheva, Zlatina

Publication type:

Article

Enhanced extraction of bioactive compounds from propolis (Apis mellifera L.) using subcritical water.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42418-1

By:

Shin, Su-Bin;
Lee, Jin-Kyoung;
Ko, Min-Jung

Publication type:

Article

Enhanced extraction of bioactive compounds from propolis (Apis mellifera L.) using subcritical water.

Published in:

Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-42418-1

By:

Shin, Su-Bin;
Lee, Jin-Kyoung;
Ko, Min-Jung

Publication type:

Article

Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.

Published in:

Clinical Endocrinology, 2010, v. 73, n. 1, p. 66, doi. 10.1111/j.1365-2265.2010.03782.x

By:

Jung Min Ko;
Jae-Min Kim;
Gu-Hwan Kim;
Beom Hee Lee;
Han-Wook Yoo

Publication type:

Article

The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome.

Published in:

Clinical Endocrinology, 2010, v. 72, n. 2, p. 196, doi. 10.1111/j.1365-2265.2009.03681.x

By:

Jung Min Ko;
Jae-Min Kim;
Chong-Kun Cheon;
Duk-Hee Kim;
Dae-Yeol Lee;
Woo Yeong Cheong;
Eun Young Kim;
Mi Jung Park;
Han-Wook Yoo

Publication type:

Article

Common exon 3 polymorphism of the GH receptor ( GHR) gene and effect of GH therapy on growth in Korean children with idiopathic short stature (ISS).

Published in:

Clinical Endocrinology, 2009, v. 70, n. 1, p. 82, doi. 10.1111/j.1365-2265.2008.03418.x

By:

Jung Min Ko;
Jung Young Park;
Han-Wook Yoo

Publication type:

Article

Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54

By:

Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Ja Hye;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Cho, Jahyang;
Cheon, Chong-Kun;
Ko, Jung Min;
Lee, Jung Hyun;
Yoo, Han-Wook

Publication type:

Article

Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 4, p. 213, doi. 10.1038/jhg.2015.2

By:

Seo, Jieun;
Choi, In-Ho;
Lee, Je Sang;
Yoo, Yongjin;
Kim, Nayoung KD;
Choi, Murim;
Ko, Jung Min;
Shin, Yong Beom

Publication type:

Article

Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25

By:

Cheon, Chong Kun;
Sohn, Young Bae;
Ko, Jung Min;
Lee, Yeoun Joo;
Song, Ji Sun;
Moon, Jea Woo;
Yang, Bo Kyoung;
Ha, Il Soo;
Bae, Eun Jung;
Jin, Hyun-Seok;
Jeong, Seon-Yong

Publication type:

Article

Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.

Published in:

Journal of Human Genetics, 2013, v. 58, n. 2, p. 73, doi. 10.1038/jhg.2012.135

By:

Bae Sohn, Young;
Gon Lee, Cha;
Min Ko, Jung;
Yang, Jung-Ah;
Yun, Jun-No;
Jung, Eun-Jung;
Jin, Hyun-Seok;
Park, Sang-Jin;
Yong Jeong, Seon

Publication type:

Article

PTPN11, SOS1, KRAS, and RAF1 gene analysis, and genotype–phenotype correlation in Korean patients with Noonan syndrome.

Published in:

Journal of Human Genetics, 2008, v. 53, n. 11/12, p. 999, doi. 10.1007/s10038-008-0343-6

By:

Jung Min Ko;
Jae-Min Kim;
Gu-Hwan Kim;
Han-Wook Yoo

Publication type:

Article

Fuchs Endothelial Corneal Dystrophy in a Heterozygous Carrier of Congenital Hereditary Endothelial Dystrophy Type 2 with a Novel Mutation in SLC4A11.

Published in:

Ophthalmic Genetics, 2015, v. 36, n. 3, p. 284, doi. 10.3109/13816810.2014.881510

By:

Kim, Jae-hyung;
Ko, Jung Min;
Tchah, Hungwon

Publication type:

Article

Development of disease‐specific growth charts for Korean children with Beckwith–Wiedemann syndrome.

Published in:

Clinical Genetics, 2024, v. 105, n. 5, p. 533, doi. 10.1111/cge.14488

By:

Choi, Naye;
Kim, Hwa Young;
Ko, Jung Min

Publication type:

Article

Skeletal overgrowth syndrome caused by overexpression of C-type natriuretic peptide in a girl with balanced chromosomal translocation, t(1;2)(q41;q37.1).

Published in:

American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 5, p. 1033, doi. 10.1002/ajmg.a.36884

By:

Ko, Jung Min;
Bae, Jun‐Seok;
Choi, Jin Sun;
Miura, Kohji;
Lee, Hye Ran;
Kim, Ok‐Hwa;
Kim, Nayoung KD;
Oh, Sun Kyung;
Ozono, Keiichi;
Lee, Choon‐Ki;
Choi, In Ho;
Park, Woong‐Yang;
Cho, Tae‐Joon

Publication type:

Article

The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure.

Published in:

2022

By:

Kim, Soo Yeon;
Lee, Seungbok;
Woo, Hyewon;
Han, Jiyeon;
Ko, Young Jun;
Shim, Youngkyu;
Park, Soojin;
Jang, Se Song;
Lim, Byung Chan;
Ko, Jung Min;
Kim, Ki Joong;
Cho, Anna;
Kim, Hunmin;
Hwang, Hee;
Choi, Ji Eun;
Kim, Man Jin;
Moon, Jangsup;
Seong, Moon-Woo;
Park, Sung Sup;
Choi, Sun Ah

Publication type:

journal article

Prospective study of epigenetic alterations responsible for isolated hemihyperplasia/hemihypoplasia and their association with leg length discrepancy.

Published in:

2021

By:

Shin, Chang Ho;
Lim, Chaemoon;
Kim, Hwa Young;
Yoo, Won Joon;
Cho, Tae-Joon;
Choi, In Ho;
Ko, Jung Min

Publication type:

journal article

A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Published in:

Yonsei Medical Journal, 2018, v. 59, n. 5, p. 652, doi. 10.3349/ymj.2018.59.5.652

By:

Jung Min Ko;
Kyung Sun Park;
Yeeok Kang;
Seong-Hyeuk Nam;
Yoonjung Kim;
Inho Park;
Hyun Wook Chae;
Soon Min Lee;
Kyung-A Lee;
Jong-Won Kim

Publication type:

Article

Array-Based Comparative Genomic Hybridization in 190 Korean Patients with Developmental Delay and/or Intellectual Disability: A Single Tertiary Care University Center Study.

Published in:

Yonsei Medical Journal, 2013, v. 54, n. 6, p. 1463, doi. 10.3349/ymj.2013.54.6.1463

By:

Cha Gon Lee;
Sang-Jin Park;
Jun-No Yun;
Jung Min Ko;
Hyon-Ju Kim;
Shin-Young Yim;
Young Bae Sohn

Publication type:

Article

A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

Published in:

BMC Medical Genetics, 2019, v. 20, n. 1, p. N.PAG, doi. 10.1186/s12881-019-0921-9

By:

Ryu, Jaehui;
Ko, Jung Min;
Shin, Choong-Ho

Publication type:

Article

Clinical and genetic features of childhood-onset congenital combined pituitary hormone deficiency: a retrospective, single-center cohort study.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 6, p. 379, doi. 10.6065/apem.2448008.004

By:

Yoonha Lee;
Young Ah Lee;
Jung Min Ko;
Choong Ho Shin;
Yun Jeong Lee

Publication type:

Article

Clinical management and emerging therapies of FGFR3-related skeletal dysplasia in childhood.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 2, p. 90, doi. 10.6065/apem.2244114.057

By:

Hwa Young Kim;
Jung Min Ko

Publication type:

Article

Two Korean girls with complete androgen insensitivity syndrome diagnosed in infancy.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 4, p. 220, doi. 10.6065/apem.2018.23.4.220

By:

You Jung Heo;
Jung Min Ko;
Young Ah Lee;
Choong Ho Shin;
Sei Won Yang;
Man Jin Kim;
Sung Sub Park

Publication type:

Article

A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication.

Published in:

2014

By:

Gyung Min Lee;
Jung Min Ko;
Choong Ho Shin;
Sei Won Yang

Publication type:

Case Study

A Korean Child with Schaaf-Yang Syndrome Presented with Hearing Impairment: A Case Report.

Published in:

2022

By:

Seung Hoon Lee;
Seung Han Shin;
Jung Min Ko;
Boram Kim;
Hyeon Sae Oh;
Man Jin Kim;
Seul Gi Park;
Ee-Kyung Kim;
Han-Suk Kim

Publication type:

Case Study

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Published in:

Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.990015

By:

Soojin Park;
Se Song Jang;
Seungbok Lee;
Minsoo Kim;
Hyungtai Sim;
Hyeongseok Jeon;
Sung Eun Hong;
Jean Lee;
Jeongeun Lee;
Eun Young Jeon;
Jeongha Lee;
Cho-Rong Lee;
Soo Yeon Kim;
Man Jin Kim;
Yoon, Jihoon G.;
Byung Chan Lim;
Woo Joong Kim;
Ki Joong Kim;
Jung Min Ko;
Anna Cho

Publication type:

Article

Association of aspirin and statin use with the risk of liver cancer in chronic hepatitis B: A nationwide population‐based study.

Published in:

Liver International, 2021, v. 41, n. 11, p. 2777, doi. 10.1111/liv.15011

By:

Choi, Won‐Mook;
Kim, Hyo Jeong;
Jo, Ae Jeong;
Choi, So Hyun;
Han, Seungbong;
Ko, Min Jung;
Lim, Young‐Suk

Publication type:

Article