Ja Hye Kim
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Explore the profile of Ja Hye Kim including associated specialties, affiliations and a list of published articles.
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Citations
311
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Recent Articles
1.
Kim D, Yoon J, Bae H, Hwang S, Seo G, Koh J, et al.
J Hum Genet
. 2025 Feb;
PMID: 40000719
The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these...
2.
Kim J, Lee Y, Hwang S, Kim D, Lee B, Kim G, et al.
Exp Clin Endocrinol Diabetes
. 2024 Oct;
133(2):83-91.
PMID: 39419286
Patients with a hepatic type of glycogen storage diseases (GSDs) can manifest endocrine features such as hypoglycemia, dyslipidemia, or osteoporosis. This study aimed to investigate the long-term endocrine consequences in...
3.
Kim J, Kim K, Han J, Kim D, Kwak C, Choi J, et al.
Investig Clin Urol
. 2024 Sep;
65(5):487-493.
PMID: 39249922
Purpose: We aimed to identify the genetic causes of hypospadias in children using targeted gene panel sequencing for disorders of sex development (DSD). Materials And Methods: This study included 18...
4.
Kim I, Kim M, Jung S, Kim W, Lee J, Ju Y, et al.
Exp Mol Med
. 2024 Jul;
56(8):1750-1762.
PMID: 39085355
Low-level somatic mutations in the human brain are implicated in various neurological disorders. The contribution of low-level brain somatic mutations to autism spectrum disorder (ASD), however, remains poorly understood. Here,...
5.
Yoon J, Hwang S, Bae H, Kim D, Seo G, Koh J, et al.
J Hum Genet
. 2024 Jun;
69(9):417-423.
PMID: 38824232
Introduction: Kabuki syndrome (KS) is a rare disorder characterized by typical facial features, skeletal anomalies, fetal fingertip pad persistence, postnatal growth retardation, and intellectual disabilities. Heterozygous variants of the KMT2D...
6.
Cha J, Kang E, Na J, Ryu S, Choi Y, Kim J
J Clin Endocrinol Metab
. 2024 Apr;
110(2):e283-e293.
PMID: 38563465
Context: Preterm (PT) and full-term with low birth weight (FT-LBW) children are at a high-risk of poor growth outcomes. Objective: This work aimed to investigate the growth trajectories of PT...
7.
Yoon J, Hwang S, Kim J, Kim G, Yoo H, Choi J
Ann Pediatr Endocrinol Metab
. 2024 Mar;
29(1):54-59.
PMID: 38461806
Purpose: Deficiency of 21-hydroxylase (21-OHD) is an autosomal recessively inherited disorder that is characterized by adrenal insufficiency and androgen excess. This study was performed to investigate the clinical utility of...
8.
Hwang S, Lee Y, Yoon J, Kim J, Kim H, Koh K, et al.
Ann Pediatr Endocrinol Metab
. 2024 Jan;
29(2):109-118.
PMID: 38271994
Purpose: As the survival rate from pediatric cancers has increased significantly with advances in treatment modalities, long-term endocrine complications have also risen. This study investigated the frequencies and risks of...
9.
Kim J, Lee Y, Hwang S, Yoon J, Kim G, Yoo H, et al.
Exp Clin Endocrinol Diabetes
. 2023 Nov;
132(1):39-46.
PMID: 37973156
Purpose: Multiple endocrine neoplasia types 1 (MEN1) and 2 (MEN2) are inherited endocrine tumor syndromes caused by mutations in the or genes. This study aimed to investigate clinical outcomes and...
10.
Kim J, Choi Y, Hwang S, Yoon J, Kim G, Yoo H, et al.
Exp Clin Endocrinol Diabetes
. 2023 Jul;
131(10):515-522.
PMID: 37437600
Objective: Adrenal tumors are generally rare in children and can be a part of familial cancer syndrome. This research was conducted to examine the clinical outcomes, histopathological results, and genetic...