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Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Annals of Pediatric Endocrinology & Metabolism, 2020, 25(2), , pp.126-131

2020

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Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature

Annals of Pediatric Endocrinology & Metabolism, 2020, 25(4), , pp.272-276

2020

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Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency

Annals of Pediatric Endocrinology & Metabolism, 2022, 27(1), , pp.37-43

2022

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Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea

Annals of human genetics, 2024-03, Vol.88 (2), p.101-112

2024

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Hematuria and proteinuria in a mass school urine screening test

Pediatric nephrology (Berlin, West), 2005-08, Vol.20 (8), p.1126-1130

2005

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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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Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea

Scientific reports, 2023-04, Vol.13 (1), p.6827-6827, Article 6827

2023

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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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Lower albumin level and longer disease duration are risk factors of acute kidney injury in hospitalized children with nephrotic syndrome

Pediatric nephrology (Berlin, West), 2021-03, Vol.36 (3), p.701-709

2021

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Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study

Hormone research in paediatrics, 2018-01, Vol.90 (1), p.54-63

2018

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Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial

Hormone research in paediatrics, 2018-01, Vol.90 (1), p.44-53

2018

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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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Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents

Clinical biochemistry, 2012-01, Vol.45 (1-2), p.16-21

2012

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Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial

BMC endocrine disorders, 2021-12, Vol.21 (1), p.243-10, Article 243

2021

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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 non-autoimmune hyperthyroidism

Annals of pediatric endocrinology & metabolism, 2020-12, Vol.25 (4), p.282-286

2020

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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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Remission of Proteinuria May Protect against Progression to Chronic Kidney Disease in Pediatric-Onset IgA Nephropathy

Journal of clinical medicine, 2020-06, Vol.9 (7), p.2058

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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The influence of gonadotropin releasing hormone agonist treatment on the body weight and body mass index in girls with idiopathic precocious puberty and early puberty

Annals of Pediatric Endocrinology & Metabolism, 2017, 22(2), , pp.95-101

2017

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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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Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Identification of a heterozygous ACAN mutation in a 15-year-old boy with short stature who presented with advanced bone age: a case report and review of the literature

Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea

Hematuria and proteinuria in a mass school urine screening test

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

Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea

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

Lower albumin level and longer disease duration are risk factors of acute kidney injury in hospitalized children with nephrotic syndrome

Once-Weekly Administration of Sustained-Release Growth Hormone in Korean Prepubertal Children with Idiopathic Short Stature: A Randomized, Controlled Phase II Study

Effect of Growth Hormone Therapy on Height Velocity in Korean Children with Idiopathic Short Stature: A Phase III Randomised Controlled Trial

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

Reference values for serum levels of insulin-like growth factor-I and insulin-like growth factor binding protein-3 in Korean children and adolescents

Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial

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 non-autoimmune hyperthyroidism

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

Remission of Proteinuria May Protect against Progression to Chronic Kidney Disease in Pediatric-Onset IgA Nephropathy

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

The influence of gonadotropin releasing hormone agonist treatment on the body weight and body mass index in girls with idiopathic precocious puberty and early puberty

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

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