Found: 29
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Clinical and endocrine characteristics and genetic analysis of Korean children with McCune-Albright syndrome: a retrospective cohort study.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Prevalence and risk factors for type 2 diabetes mellitus with Prader-Willi syndrome: a single center experience.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Development and validation of the Pediatric-Youth Hyperphagia Assessment for Prader-Willi syndrome.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III.
- Published in:
- Journal of Personalized Medicine, 2022, v. 12, n. 5, p. 665, doi. 10.3390/jpm12050665
- By:
- Publication type:
- Article
Two Novel Mutations of ANKRD11 Gene and Wide Clinical Spectrum in KBG Syndrome: Case Reports and Literature Review.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.579805
- By:
- Publication type:
- Article
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Prevalence and Epidemiological Characteristics of Endoscopically Proven Reflux Esophagitis in Children in Korea.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2017, v. 20, n. 3, p. 160, doi. 10.5223/pghn.2017.20.3.160
- By:
- Publication type:
- Article
Acute Necrotizing Pancreatitis Associated with Mycoplasma pneumoniae Infection in a Child.
- Published in:
- Pediatric Gastroenterology, Hepatology & Nutrition, 2015, v. 18, n. 3, p. 209, doi. 10.5223/pghn.2015.18.3.209
- By:
- Publication type:
- Article
Clinical, Hormonal, and Neuroradiological Characteristics and Therapeutic Outcomes of Prolactinomas in Children and Adolescents at a Single Center.
- Published in:
- Frontiers in Endocrinology, 2020, p. N.PAG, doi. 10.3389/fendo.2020.00527
- By:
- Publication type:
- Article
Identification of a novel KAT6A variant in an infant presenting with facial dysmorphism and developmental delay: a case report and literature review.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Cardiac Evaluation before and after Oral Propranolol Treatment for Infantile Hemangiomas.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 11, p. 3332, doi. 10.3390/jcm13113332
- By:
- Publication type:
- Article
Impact of Nontreatment Duration and Keratopathy on Major Adverse Cardiovascular Events in Fabry Disease: A Nationwide Cohort Study.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 2, p. 479, doi. 10.3390/jcm13020479
- By:
- Publication type:
- Article
DHX30-Associated Neurodevelopmental Disorder with Severe Motor Impairment and Absent Language: First Korean Case in Two Siblings and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2023, v. 53, n. 2, p. 325
- By:
- Publication type:
- Article
Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 6, p. 776
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- Publication type:
- Article
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2018, v. 48, n. 4, p. 522
- By:
- Publication type:
- Article
Impact of BMI on peak growth hormone responses to provocative tests and therapeutic outcome in children with growth hormone deficiency.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-52644-1
- By:
- Publication type:
- Article
Identification of a novel mutation in EXT2 in a fourth‐generation Korean family with multiple osteochondromas and overview of mutation spectrum.
- Published in:
- Annals of Human Genetics, 2019, v. 83, n. 3, p. 160, doi. 10.1111/ahg.12298
- By:
- Publication type:
- Article
Measuring the Differentiated Impact of New Low-Income Housing Tax Credit (LIHTC) Projects on Households’ Movements by Income Level within Urban Areas.
- Published in:
- Urban Science, 2021, v. 5, n. 4, p. 1, doi. 10.3390/urbansci5040079
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- Publication type:
- Article
2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 3, p. 168, doi. 10.6065/apem.2346168.084
- By:
- Publication type:
- Article
Long-term follow-up on MURCS (Müllerian duct, renal, cervical somite dysplasia) association and a review of the literature.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 3, p. 207, doi. 10.6065/apem.2019.24.3.207
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- Publication type:
- Article
A case of de novo 18p deletion syndrome with panhypopituitarism.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 1, p. 60, doi. 10.6065/apem.2019.24.1.60
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- Publication type:
- Article
A novel de novo mosaic mutation in PHEX in a Korean patient with hypophosphatemic rickets.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 4, p. 229, doi. 10.6065/apem.2018.23.4.229
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- Publication type:
- Article
Etiological trends in male central precocious puberty.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 2, p. 75, doi. 10.6065/apem.2018.23.2.75
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- Publication type:
- Article
An atypical case of Noonan syndrome with KRAS mutation diagnosed by targeted exome sequencing.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2017, v. 22, n. 3, p. 203, doi. 10.6065/apem.2017.22.3.203
- By:
- Publication type:
- Article
2q37 Deletion syndrome confirmed by high-resolution cytogenetic analysis.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 1, p. 40, doi. 10.6065/apem.2015.20.1.40
- By:
- Publication type:
- Article
Coexistence of Growth Hormone Deficiency and Pituitary Microadenoma in a Child with Unique Mosaic Turner Syndrome: A Case Report and Literature Review.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 10, p. 783, doi. 10.3390/diagnostics10100783
- By:
- Publication type:
- Article
Impact of 6-month triptorelin formulation on predicted adult height and basal gonadotropin levels in patients with central precocious puberty.
- Published in:
- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1134977
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- Publication type:
- Article