Found: 27
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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
Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
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
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
Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial.
- Published in:
- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00904-5
- By:
- Publication type:
- Article
Long-term performance of mechanically post-installed anchor systems.
- Published in:
- Advances in Structural Engineering, 2017, v. 20, n. 3, p. 288, doi. 10.1177/1369433216649396
- By:
- Publication type:
- Article
Nonlinear Lattice-Based Model for Cyclic Analysis of Reinforced Normal and High-Strength Concrete Columns.
- Published in:
- Advances in Structural Engineering, 2015, v. 18, n. 7, p. 1017, doi. 10.1260/1369-4332.18.7.1017
- By:
- Publication type:
- Article
Abnormal thalamocortical connectivity of preterm infants with elevated thyroid stimulating hormone identified with diffusion tensor imaging.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12864-4
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- 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
- By:
- 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
First Korean Case of Infantile Hypophosphatasia with Novel Mutation in ALPL and Literature Review.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 3, p. 302
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- Publication type:
- Article
Letter to the Editor: A Novel Mutation in the CREBBP Gene of a Korean Girl with Rubinstein-Taybi syndrome.
- Published in:
- Annals of Clinical & Laboratory Science, 2015, v. 45, n. 4, p. 458
- By:
- Publication type:
- Article
Preclinical trial of noncontact anthropometric measurement using IR-UWB radar.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-12209-1
- By:
- Publication type:
- Article
Experimental and Numerical Study on the Behavior of RC Members under Combined Loads.
- Published in:
- International Journal of Concrete Structures & Materials, 2024, v. 18, p. 1, doi. 10.1186/s40069-023-00645-w
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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
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
- By:
- Publication type:
- Article
De novo a novel variant of CaSR gene in a neonate with congenital hypoparathyroidism.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2018, v. 23, n. 2, p. 107, doi. 10.6065/apem.2018.23.2.107
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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
- By:
- 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
Elevation of serum creatine kinase during methimazole treatment of Graves disease in a 13-year-old girl and a literature review of similar cases.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Altered structural brain networks at term-equivalent age in preterm infants with grade 1 intraventricular hemorrhage.
- Published in:
- Italian Journal of Pediatrics, 2020, v. 46, n. 1, p. 1, doi. 10.1186/s13052-020-0796-6
- 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
Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I.
- Published in:
- BMC Medical Genetics, 2016, v. 17, p. 1, doi. 10.1186/s12881-016-0319-x
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- Publication type:
- Article
Different maturation of gut microbiome in Korean children.
- Published in:
- Frontiers in Microbiology, 2022, v. 13, p. 1, doi. 10.3389/fmicb.2022.1036533
- 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
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- Publication type:
- Article