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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Journal of bone and mineral research, 2021-02, Vol.36 (2), p.283-297

2021

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Clinical use of whole exome sequencing in children with developmental delay/intellectual disability

Pediatrics and neonatology, 2024-09, Vol.65 (5), p.445-450

2024

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Changes in the thyroid hormone profiles in children with nephrotic syndrome

Korean journal of pediatrics, 2019-03, Vol.62 (3), p.85-89

2019

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A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy

Annals of child neurology, 2023-01, Vol.31 (1), p.82-85

2023

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Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

Childhood Kidney Diseases, 2018, 22(2), , pp.37-41

2018

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Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Childhood Kidney Diseases, 2021, 25(2), , pp.128-132

2021

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An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism

Annals of Pediatric Endocrinology & Metabolism, 2020, 25(4), , pp.282-286

2020

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A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Childhood Kidney Diseases, 2016, 20(2), , pp.79-82

2016

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Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

Bone Reports, 2020-10, Vol.13, p.100647, Article 100647

2020

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Transforming growth factor-β1 regulates human renal proximal tubular epithelial cell susceptibility to natural killer cells via modulation of the NKG2D ligands

International journal of molecular medicine, 2015-10, Vol.36 (4), p.1180-1188

2015

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A Rare Case of Hyponatremia Caused by Reset Osmostat in a Neonate with Cleft Lip, Cleft Palate, and Imperforate Anus

Neonatal medicine (Seoul, Korea), 2018-08, Vol.25 (3), p.131-135

2018

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Renal Problems in Early Adult Patients with Turner Syndrome

Childhood Kidney Diseases, 2015, 19(2), , pp.154-158

2015

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Insulin autoimmune syndrome induced by methimazole in a Korean girl with Graves' disease

Annals of Pediatric Endocrinology & Metabolism, 2013, 18(1), , pp.32-35

2013

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Changes in the thyroid hormone profiles in children with nephrotic syndrome

Korean journal of pediatrics, 2019, Vol.62 (3), p.85-89

2019

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Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam

Annals of Pediatric Endocrinology & Metabolism, 2015, 20(4), , pp.206-212

2015

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Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

Childhood kidney diseases, 2018, Vol.22 (2), p.37-41

2018

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A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Childhood kidney diseases, 2016, Vol.20 (2), p.79-82

2016

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Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Childhood kidney diseases, 2021, Vol.25 (2), p.128-132

2021

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Role of C-type Natriuretic Peptide in Linear Growth

Annals of Pediatric Endocrinology & Metabolism, 2012, 17(4), , pp.205-210

Chung, Woo Yeong

2012

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Renal Problems in Early Adult Patients with Turner Syndrome

Childhood kidney diseases, 2015, Vol.19 (2), p.154-158

2015

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Growth Hormone Treatment in Children with Chronic Kidney Disease

Journal of the Korean Society of Pediatric Nephrology, 2009, Vol.13 (1), p.14

Chung, Woo Yeong

2009

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Novel Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

Childhood kidney diseases, 2018-10, Vol.22 (2), p.37-41

2018

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Analysis of cytosine adenine repeat polymorphism of the IGF-I promoter gene in children with idiopathic short stature

Korean journal of pediatrics, 2009, Vol.52 (3), p.356

2009

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Characteristics of Interstitial Deletion in Chromosome 4q Confirmed by Array Comparative Genomic Hybridization: A Case Report and Literature Review

Laboratory Medicine Online, 2020-04, Vol.10 (2), p.169

2020

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A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea

Annals of child neurology, 2021-04, Vol.29 (2), p.101-104

2021

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Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

Clinical use of whole exome sequencing in children with developmental delay/intellectual disability

Changes in the thyroid hormone profiles in children with nephrotic syndrome

A Novel Nonsense Variant in the BCL11A Gene in a Male Patient with Intellectual Disability and Epilepsy

Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

An A627V-activating mutation in the thyroid-stimulating hormone receptor gene in familial nonautoimmune hyperthyroidism

A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Novel RPL13 variants and evidence for incomplete penetrance in a human ribosomopathy with spondyloepimetaphyseal dysplasia

Transforming growth factor-β1 regulates human renal proximal tubular epithelial cell susceptibility to natural killer cells via modulation of the NKG2D ligands

A Rare Case of Hyponatremia Caused by Reset Osmostat in a Neonate with Cleft Lip, Cleft Palate, and Imperforate Anus

Renal Problems in Early Adult Patients with Turner Syndrome

Insulin autoimmune syndrome induced by methimazole in a Korean girl with Graves' disease

Changes in the thyroid hormone profiles in children with nephrotic syndrome

Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam

Novel SLC5A2 Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

A 10-year-old Boy with Microscopic Hematuria and Renal Biopsy Findings Mimicking Fabry Disease

Morning Glory Syndrome associated with Autosomal Dominant Alport Syndrome with a Heterozygous COL4A4 Mutation

Role of C-type Natriuretic Peptide in Linear Growth

Renal Problems in Early Adult Patients with Turner Syndrome

Growth Hormone Treatment in Children with Chronic Kidney Disease

Novel Mutations and Genetic Characterization in Korean Patients with Familial Renal Glucosuria

Analysis of cytosine adenine repeat polymorphism of the IGF-I promoter gene in children with idiopathic short stature

Characteristics of Interstitial Deletion in Chromosome 4q Confirmed by Array Comparative Genomic Hybridization: A Case Report and Literature Review

A MAST1 Mutation Underlying Mega-Corpus Callosum Syndrome with Extended Phenotypes: The First Case in Korea

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