Ja Hye Kim - Concepedia

Author

Ja Hye Kim

University of Ulsan ORCID

Also Known As

JA Kim, Ja Hye Kim, Ja Kim, Ja Hye Kim, Jeong-Ah Kim, Jun Kim, Kim, Ja, Sang Min Park, Yakup Gnll

118

Publications

810

Citations

H-Index

Concepts

All Affiliations

University of Ulsan Ulsan College Asan Medical Center Hanyang University Guri Hospital Green Cross (South Korea)

About

Ja Hye Kim is an author at University of Ulsan specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	8	8	258
2	Molecular Genetics	3	3	87
3	Social Sciences	1	1	73
4	Hepatology	1	1	24
5	Immunology	1	1	24

Ja Hye Kim

Publications

579

Citations

H-Index

Page 1

	Year	Citations
Diagnostic yield of targeted gene panel sequencing to identify the genetic etiology of disorders of sex development Ja Hye Kim, Eungu Kang, Sun Hee Heo, Molecular and Cellular Endocrinology InfertilityDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine	2017	73
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency Jin‐Ho Choi, Beom Hee Lee, Ja Hye Kim, Journal of Human Genetics Genetic DisorderGeneticsInherited Metabolic DiseasePathologyMolecular Genetics	2015	47
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism Ja Hye Kim, Young‐Lim Shin, Seung Yang, Clinical Endocrinology	2015	44
Detection rate and clinical impact of respiratory viruses in children with Kawasaki disease Ja Hye Kim, Jeong Jin Yu, Jina Lee, Korean Journal of Pediatrics	2012	42
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes Ja Hye Kim, Beom Hee Lee, Ja Hyang Cho, Journal of Human Genetics UrologyHeart FailureFabry DiseaseCardiovascular DiseaseMedicine	2016	39
Novel mutations and clinical outcomes of copper-histidine therapy in Menkes disease patients Ja Hye Kim, Beom Hee Lee, Yoo‐Mi Kim, Metabolic Brain Disease Mendelian DisorderMenkes Disease PatientsPathologyCopper-histidine TherapyClinical Outcomes	2014	30
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience Sun-Jeong Shin, Yeonah Sul, Ja Hye Kim, Annals of Pediatric Endocrinology & Metabolism	2015	30
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism Ja Hye Kim, Go Hun Seo, Gu-Hwan Kim, Experimental and Clinical Endocrinology & Diabetes	2018	28
Ultra‐Low Level Somatic Mutations and Structural Variations in Focal Cortical Dysplasia Type <scp>II</scp> Ja Hye Kim, Ji‐Hyung Park, Junehawk Lee Annals of Neurology	2023	27
Clinical, Biochemical, and Genetic Characterization of Glycogen Storage Type IX in a Child with Asymptomatic Hepatomegaly Jung Ah Kim, Ja Hye Kim, Beom Hee Lee, Pediatric Gastroenterology Hepatology & Nutrition Gsd IxGenetic TestingAsymptomatic HepatomegalyGeneticsGlycobiology	2015	24

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