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, +6

Molecular and Cellular Endocrinology

InfertilityDevelopmental BiologyMendelian DisorderGenetic DisorderMedicine +10

Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types

Eungu Kang, Yoon-Myung Kim, Go Hun Seo, +11

Journal of Human Genetics

Nf1 Mutation TypesFibrosisMendelian DisorderPhenotype CategorizationGenetic Disorder +8

Endocrine dysfunctions in children with Williams-Beuren syndrome

Yoon-Myung Kim, Ja Hyang Cho, Eungu Kang, +5

Annals of Pediatric Endocrinology & Metabolism

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, +4

Journal of Human Genetics

UrologyHeart FailureFabry DiseaseCardiovascular DiseaseMedicine +6

Weight changes of children in 1 year during COVID-19 pandemic

Si-Hwa Gwag, Ye Rim Oh, Jae Wook Ha, +5

Journal of Pediatric Endocrinology and Metabolism

Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy

Sun Hee Heo, Eungu Kang, Yoon-Myung Kim, +12

Journal of Medical Genetics

Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening

Eungu Kang, Yoon-Myung Kim, Min‐Ji Kang, +6

BMC Pediatrics

Mutation Spectrum of STAR and the Founder Effect of p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia

Eungu Kang, Yoon-Myung Kim, Gu-Hwan Kim, +3

Molecular Medicine

Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay

Go Hun Seo, Hane Lee, Jungsul Lee, +20

Molecular Medicine

2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents

Su Jin Kim, Ji Hyun Kim, Yong Hee Hong, +11

Annals of Pediatric Endocrinology & Metabolism

Teenage PregnancyGynecologyClinical GuidelinesEducationClinical Practice Guidelines +24