Works by Ja Hye Kim

Results: 34

Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2025, v. 30, n. 3, p. 140, doi. 10.6065/apem.2448128.064

By:

Dohyung Kim;
Ji-Hee Yoon;
Soojin Hwang;
Ja Hye Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Permanent Congenital Hypothyroidism in Very Low Birth Weight Infants: A Single Center's Experience.

Published in:

Neonatal Medicine, 2025, v. 32, n. 1, p. 30, doi. 10.5385/nm.2025.32.1.30

By:

Roh, Joo Hyung;
Kim, Tae-Gyeong;
Seol, Keon Hee;
Kim, Chae Young;
Kim, Soo Hyun;
Jeong, Ji Yoon;
Kim, Ja Hye;
Jung, Euiseok;
Choi, Jin-Ho;
Lee, Byong Sop

Publication type:

Article

Atypical Manifestation of Carnitine Palmitoyltransferase 1A Deficiency: Hepatosplenomegaly and Nephromegaly.

Published in:

Journal of Pediatric Gastroenterology & Nutrition, 2015, v. 60, n. 3, p. e19, doi. 10.1097/MPG.0b013e3182a95a42

By:

Beom Hee Lee;
Yoo-Mi Kim;
Ja Hye Kim;
Gu-Hwan Kim;
Jae-Min Kim;
Joo Hyun Kim;
Kyu Ha Woo;
Song Hyun Yang;
Chong Jai Kim;
In-Hee Choi;
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

Short-term efficacy of N-carbamylglutamate in a patient with N-acetylglutamate synthase deficiency.

Published in:

Journal of Human Genetics, 2015, v. 60, n. 7, p. 395, doi. 10.1038/jhg.2015.30

By:

Kim, Ja Hye;
Kim, Yoo-Mi;
Lee, Beom Hee;
Cho, Ja Hyang;
Kim, Gu-Hwan;
Choi, Jin-Ho;
Yoo, Han-Wook

Publication type:

Article

Allele frequency of a 24 bp duplication in exon 10 of the CHIT1 gene in the general Korean population and in Korean patients with Gaucher disease.

Published in:

Journal of Human Genetics, 2014, v. 59, n. 5, p. 276, doi. 10.1038/jhg.2014.16

By:

Woo, Kyu Ha;
Lee, Beom Hee;
Heo, Sun Hee;
Kim, Jae-Min;
Kim, Gu-Hwan;
Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, In-Hee;
Yang, Song Hyun;
Yoo, Han-Wook

Publication type:

Article

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.

Published in:

Investigative & Clinical Urology, 2024, v. 65, n. 5, p. 487, doi. 10.4111/icu.20230416

By:

Ja Hye Kim;
Kun Suk Kim;
Jae Hyeon Han;
Dongsu Kim;
Chan Hoon Kwak;
Jin-Ho Choi;
Sang Hoon Song

Publication type:

Article

Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.

Published in:

Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944

By:

Kim, Ja Hye;
Shin, Young‐Lim;
Yang, Seung;
Cheon, Chong Kun;
Cho, Ja Hyang;
Lee, Beom Hee;
Kim, Gu‐Hwan;
Lee, Jin Ok;
Seo, Eul Joo;
Choi, Jin‐Ho;
Yoo, Han‐Wook

Publication type:

Article

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

Published in:

Hormone Research in Paediatrics, 2018, v. 90, n. 5, p. 283, doi. 10.1159/000493468

By:

Choi, Jin-Ho;
Cho, Ja Hyang;
Kim, Ja Hye;
Yoo, Eun-Gyong;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

Identification and Functional Characterization of Two Novel Nonsense Mutations in the β-Subunit of INSR That Cause Severe Insulin Resistance Syndrome.

Published in:

Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 73, doi. 10.1159/000381624

By:

Choi, Jin-Ho;
Kang, Minji;
Kim, Ja Hye;
Cho, Jahyang;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

Novel Heterozygous Mutations of NR5A1 and Their Functional Characteristics in Patients with 46,XY Disorders of Sex Development without Adrenal Insufficiency.

Published in:

Hormone Research in Paediatrics, 2015, v. 84, n. 2, p. 116, doi. 10.1159/000431324

By:

Woo, Kyu Ha;
Cheon, Buwon;
Kim, Ja Hye;
Cho, Jahyang;
Kim, Gu-Hwan;
Yoo, Han-Wook;
Choi, Jin-Ho

Publication type:

Article

Clinical and Endocrine Features of Two Allan-Herndon-Dudley Syndrome Patients with Monocarboxylate Transporter 8 Mutations.

Published in:

Hormone Research in Paediatrics, 2015, v. 83, n. 4, p. 288, doi. 10.1159/000371466

By:

Kim, Ja Hye;
Kim, Yoo-Mi;
Yum, Mi-Sun;
Choi, Jin-Ho;
Lee, Beom Hee;
Kim, Gu-Hwan;
Yoo, Han-Wook

Publication type:

Article

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

Published in:

Experimental & Molecular Medicine EMM, 2024, v. 56, n. 8, p. 1750, doi. 10.1038/s12276-024-01284-1

By:

Kim, Il Bin;
Kim, Myeong-Heui;
Jung, Saehoon;
Kim, Woo Kyeong;
Lee, Junehawk;
Ju, Young Seok;
Webster, Maree J.;
Kim, Sanghyeon;
Kim, Ja Hye;
Kim, Hyun Jung;
Kim, Junho;
Kim, Sangwoo;
Lee, Jeong Ho

Publication type:

Article

Phenotypic spectrum and long-term outcomes of patients with 46,XX disorders of sex development.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2025, v. 30, n. 2, p. 77, doi. 10.6065/apem.2448122.061

By:

Heeyon Yoon;
Dohyung Kim;
Ja Hye Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 2, p. 109, doi. 10.6065/apem.2346046.023

By:

Soojin Hwang;
Yena Lee;
Ji-Hee Yoon;
Ja Hye Kim;
Hyery Kim;
Kyung-Nam Koh;
Ho Joon Im;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 1, p. 54, doi. 10.6065/apem.2346014.007

By:

Ji-Hee Yoon;
Soojin Hwang;
Ja Hye Kim;
Gu-Hwan Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 3, p. 184, doi. 10.6065/apem.2244152.076

By:

Nae-Yun Lee;
Ja Hye Kim;
Ji-Hee Yoon;
Soojin Hwang;
Gu-Hwan Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 2, p. 77, doi. 10.6065/apem.2346108.054

By:

Ja Hye Kim;
Gu-Hwan Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 27, doi. 10.6065/apem.2015.20.1.27

By:

Sun-Jeong Shin;
Yeonah Sul;
Ja Hye Kim;
Ja Hyang Cho;
Gu-Hwan Kim;
Jae Hyun Kim;
Jin-Ho Choi;
Han-Wook Yoo

Publication type:

Article

Long-term follow-up on Cushing disease patient after transsphenoidal surgery.

Published in:

2014

By:

Insook Jeong;
Moonyeon Oh;
Ja Hye Kim;
Ja Hyang Cho;
Jin-Ho Choi;
Han-Wook Yoo

Publication type:

Case Study

Efficacy of growth hormone therapy in adults with childhood-onset growth hormone deficiency.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2014, v. 19, n. 1, p. 32, doi. 10.6065/apem.2014.19.1.32

By:

Ja Hye Kim;
Han-Wook Yoo;
Jin-Ho Choi

Publication type:

Article

Pathophysiology and clinical characteristics of hypothalamic obesity in children and adolescents.

Published in:

Annals of Pediatric Endocrinology & Metabolism, 2013, v. 18, n. 4, p. 161, doi. 10.6065/apem.2013.18.4.161

By:

Ja Hye Kim;
Jin-Ho Choi

Publication type:

Article

Analysis of low-level somatic mosaicism reveals stage and tissue-specific mutational features in human development.

Published in:

PLoS Genetics, 2022, v. 18, n. 9, p. 1, doi. 10.1371/journal.pgen.1010404

By:

Kim, Ja Hye;
Hwang, Shinwon;
Son, Hyeonju;
Kim, Dongsun;
Kim, Il Bin;
Kim, Myeong-Heui;
Sim, Nam Suk;
Kim, Dong-Seok;
Ha, Yoo-Jin;
Lee, Junehawk;
Kang, Hoon-Chul;
Lee, Jeong Ho;
Kim, Sangwoo

Publication type:

Article

Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type II.

Published in:

Annals of Neurology, 2023, v. 93, n. 6, p. 1082, doi. 10.1002/ana.26609

By:

Kim, Ja Hye;
Park, Ji‐Hyung;
Lee, Junehawk;
Park, Jung Woo;
Kim, Hyun Jung;
Chang, Won Seok;
Kim, Dong‐Seok;
Ju, Young Seok;
Aronica, Eleonora;
Lee, Jeong Ho

Publication type:

Article

Pathologic Impact of Insulin Resistance and Sensitivity on the Severity of Liver Histopathology in Pediatric Non-Alcoholic Steatohepatitis.

Published in:

Yonsei Medical Journal, 2017, v. 58, n. 4, p. 756, doi. 10.3349/ymj.2017.58.4.756

By:

Byung Han Park;
Jung Min Yoon;
Ja Hye Kim;
Jin-Hwa Moon;
Young Ho Lee;
Se Min Jang;
Yong Joo Kim

Publication type:

Article

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03773-6

By:

Kim, Ja Hye;
Kim, Dohyung;
Hwang, Soojin;
Kim, Gu-Hwan;
Lee, Beom Hee;
Yoo, Han-Wook;
Choi, Jin-Ho

Publication type:

Article

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Published in:

Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254

By:

Kim, Yoo-Mi;
Kim, Ja Hye;
Choi, Jin-Ho;
Kim, Gu-Hwan;
Kim, Jae-Min;
Kang, Minji;
Choi, In-Hee;
Cheon, Chong Kun;
Sohn, Young Bae;
Maccarana, Marco;
Yoo, Han-Wook;
Lee, Beom Hee

Publication type:

Article

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Published in:

Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254

By:

Yoo-Mi Kim;
Ja Hye Kim;
Jin-Ho Choi;
Gu-Hwan Kim;
Jae-Min Kim;
Minji Kang;
In-Hee Choi;
Chong Kun Cheon;
Young Bae Sohn;
Maccarana, Marco;
Han-Wook Yoo;
Beom Hee Lee

Publication type:

Article

Applications of genomic research in pediatric endocrine diseases.

Published in:

Clinical & Experimental Pediatrics, 2023, v. 66, n. 12, p. 520, doi. 10.3345/cep.2022.00948

By:

Ja Hye Kim;
Jin-Ho Choi

Publication type:

Article

Pediatric hepatocellular carcinoma associated with Niemann–Pick disease type C: Case report and literature review.

Published in:

2023

By:

Hwang, Soojin;
Choi, Yunha;
Lee, Beom Hee;
Choi, Jin‐Ho;
Kim, Ja Hye;
Yoo, Han‐Wook

Publication type:

Case Study

Etiologic distribution and clinical characteristics of pediatric diabetes in 276 children and adolescents with diabetes at a single academic center.

Published in:

2021

By:

Kim, Ja Hye;
Lee, Yena;
Choi, Yunha;
Kim, Gu-Hwan;
Yoo, Han-Wook;
Choi, Jin-Ho

Publication type:

journal article

Visual Hyper-vigilance But Insufficient Mental Representation in Children with Overweight/Obesity: Event-related Potential Study with Visual Go/NoGo Test.

Published in:

Pediatric Gastroenterology, Hepatology & Nutrition, 2019, v. 22, n. 3, p. 249, doi. 10.5223/pghn.2019.22.3.249

By:

Inkyu Gill;
Jin-Hwa Moon;
Yong Joo Kim;
Ja Hye Kim;
Dong Hyun Ahn;
Min Sook Koh

Publication type:

Article

Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly.

Published in:

2015

By:

Jung Ah Kim;
Ja Hye Kim;
Beom Hee Lee;
Gu-Hwan Kim;
Yoon S. Shin;
Han-Wook Yoo;
Kyung Mo Kim

Publication type:

Case Study

Growth Trajectories of Children Born Preterm and Full-Term With Low Birth Weight to Preschool Ages: A Nationwide Study.

Published in:

Journal of Clinical Endocrinology & Metabolism, 2025, v. 110, n. 2, p. e283, doi. 10.1210/clinem/dgae208

By:

Cha, Jong Ho;
Kang, Eungu;
Na, Jae Yoon;
Ryu, Soorack;
Choi, Young-Jin;
Kim, Ja Hye

Publication type:

Article