Found: 52
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A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
- Published in:
- Molecular Medicine, 2022, v. 28, n. 1, p. 1, doi. 10.1186/s10020-022-00464-x
- By:
- Publication type:
- Article
Healthcare coaching program for youth with type 1 diabetes in South Korea: a pilot study.
- Published in:
- Child Health Nursing Research, 2024, v. 30, n. 1, p. 17, doi. 10.4094/chnr.2023.048
- By:
- Publication type:
- Article
Practical approach to steroid 5alpha-reductase type 2 deficiency.
- Published in:
- European Journal of Pediatrics, 2011, v. 170, n. 1, p. 1, doi. 10.1007/s00431-010-1189-4
- By:
- Publication type:
- Article
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
- Published in:
- Clinical Genetics, 2017, v. 92, n. 6, p. 594, doi. 10.1111/cge.13038
- By:
- Publication type:
- Article
Functional Characterization of Gomisin N in High-Fat-Induced Drosophila Obesity Models.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 19, p. 7209, doi. 10.3390/ijms21197209
- By:
- Publication type:
- Article
Haploinsufficiency A20 misdiagnosed as PFAPA (periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis) syndrome with Kikuchi disease.
- Published in:
- Clinical & Experimental Pediatrics, 2023, v. 66, n. 2, p. 82, doi. 10.3345/cep.2022.00500
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- Publication type:
- Article
Considerations for evaluating the effectiveness and long-term outcome of enzyme replacement therapy in Pompe disease.
- Published in:
- Clinical & Experimental Pediatrics, 2020, v. 63, n. 1, p. 14, doi. 10.3345/kjp.2018.07402
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- Publication type:
- Article
Genotype and clinical outcomes in children with congenital adrenal hyperplasia.
- Published in:
- Pediatrics International, 2021, v. 63, n. 6, p. 658, doi. 10.1111/ped.14478
- By:
- Publication type:
- Article
Vitamin D receptor gene polymorphisms and type 1 diabetes mellitus in a Korean population.
- Published in:
- Pediatrics International, 2015, v. 57, n. 5, p. 870, doi. 10.1111/ped.12634
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- Publication type:
- Article
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 9, p. 501, doi. 10.1038/jhg.2015.54
- By:
- Publication type:
- Article
Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 6, p. 321, doi. 10.1038/jhg.2014.25
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- Publication type:
- Article
Low prevalence of classical galactosemia in Korean population.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 1, p. 94, doi. 10.1038/jhg.2010.152
- By:
- Publication type:
- Article
Ease of Use, Preference, and Safety of the Recombinant Human Growth Hormone Disposable Pen Compared with the Reusable Device: A Multicenter, Single-Arm, Open-Label, Switch-Over, Prospective, Phase IV Trial.
- Published in:
- Patient Preference & Adherence, 2019, v. 13, p. 2195, doi. 10.2147/PPA.S229536
- By:
- Publication type:
- Article
NANS‐CDG: Expanding clinical insights with a novel patient with novel variants.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 10, p. 1, doi. 10.1002/ajmg.a.63721
- By:
- Publication type:
- Article
Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Delineation of the genetic and clinical spectrum, including candidate genes, of monogenic diabetes: a multicenter study in South Korea.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2020, v. 33, n. 12, p. 1539, doi. 10.1515/jpem-2020-0336
- By:
- Publication type:
- Article
Novel and Recurrent ACADS Mutations and Clinical Manifestations Observed in Korean Patients with Short-chain Acyl-coenzyme a Dehydrogenase Deficiency.
- Published in:
- Annals of Clinical & Laboratory Science, 2016, v. 46, n. 4, p. 360
- By:
- Publication type:
- Article
Identification of a novel therapeutic target underlying atypical manifestation of Gaucher disease.
- Published in:
- Clinical & Translational Medicine, 2022, v. 12, n. 5, p. 1, doi. 10.1002/ctm2.862
- By:
- Publication type:
- Article
Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Cerebello-brainstem dominant form of X-linked adrenoleukodystrophy with intrafamilial phenotypic variability.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.999419
- By:
- Publication type:
- Article
The GBA p.G85E mutation in Korean patients with non-neuronopathic Gaucher disease: founder and neuroprotective effects.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A heterozygous mutation in UBE2H in a patient with developmental delay leads to an aberrant brain development in zebrafish.
- Published in:
- Human Genomics, 2023, v. 17, n. 1, p. 1, doi. 10.1186/s40246-023-00491-7
- By:
- Publication type:
- Article
A novel de novo heterozygous DYRK1A mutation causes complete loss of DYRK1A function and developmental delay.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-66750-y
- By:
- Publication type:
- Article
Clinical Characterization and Analysis of the SRD5A2 Gene in Six Korean Patients with 5α-Reductase Type 2 Deficiency.
- Published in:
- Hormone Research in Paediatrics, 2010, v. 73, n. 1, p. 41, doi. 10.1159/000271915
- By:
- Publication type:
- Article
Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases.
- Published in:
- Molecular Cytogenetics (17558166), 2011, v. 4, n. 1, p. 12, doi. 10.1186/1755-8166-4-12
- By:
- Publication type:
- Article
A Rare Cause of Life-Threatening Ketoacidosis: Novel Compound Heterozygous OXCT1 Mutations Causing Succinyl-CoA:3-Ketoacid CoA Transferase Deficiency.
- Published in:
- Yonsei Medical Journal, 2019, v. 60, n. 3, p. 308, doi. 10.3349/ymj.2019.60.3.308
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- Publication type:
- Article
The First Korean Case of HDR Syndrome Confirmed by Clinical and Molecular Investigation.
- Published in:
- Yonsei Medical Journal, 2015, v. 56, n. 1, p. 300, doi. 10.3349/ymj.2015.56.1.300
- By:
- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, n. 1, p. 147, doi. 10.2119/molmed.2015.00254
- By:
- Publication type:
- Article
Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.
- Published in:
- Molecular Medicine, 2016, v. 22, p. 147, doi. 10.2119/molmed.2015.00254
- By:
- Publication type:
- Article
Identification of a novel mutation of the SHOX gene in a patient with Leri-Weill dyschondrosteosis accompanied by growth hormone deficiency.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 3, p. 201, doi. 10.6065/apem.2346236.118
- By:
- Publication type:
- Article
The impacts of COVID-19 on childhood obesity: prevalence, contributing factors, and implications for management.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 3, p. 174, doi. 10.6065/apem.2346094.047
- By:
- Publication type:
- Article
ERRATUM: Correction of the first affiliation.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 3, p. 207, doi. 10.6065/apem.2142108.054err
- By:
- Publication type:
- Article
A novel compound heterozygous variant of the COL11A1 gene in a patient with fibrochondrogenesis type I: the first case in Korea.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 2, p. 135, doi. 10.6065/apem.2346150.075
- By:
- Publication type:
- Article
The first case of hyperosmolar diabetic ketoacidosis in a patient diagnosed with MODY 5 (maturity-onset diabetes of the young type 5) and 17q12 microdeletion syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2024, v. 29, n. 1, p. 70, doi. 10.6065/apem.2346006.003
- By:
- Publication type:
- Article
A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, p. S6, doi. 10.6065/apem.2244206.103
- By:
- Publication type:
- Article
Commentary on "Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID19 outbreak".
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 4, p. 233, doi. 10.6065/apem.2322107edi009
- By:
- Publication type:
- Article
Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 1, p. 61, doi. 10.6065/apem.2142108.054
- By:
- Publication type:
- Article
The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2023, v. 28, n. 1, p. 54, doi. 10.6065/apem.2142116.058
- By:
- Publication type:
- Article
Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2022, v. 27, n. 1, p. 37, doi. 10.6065/apem.2142110.055
- By:
- Publication type:
- Article
Commentary on "Effects of gonadotropin-releasing hormone agonist treatment on final adult height in boys with idiopathic central precocious puberty".
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2021, v. 26, n. 4, p. 215, doi. 10.6065/apem.2120134edi01
- By:
- Publication type:
- Article
Clinical, endocrinological, and molecular features of four Korean cases of cytochrome P450 oxidoreductase deficiency.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 2, p. 97, doi. 10.6065/apem.1938152.076
- By:
- Publication type:
- Article
Successful rapid weight reduction and the use of liraglutide for morbid obesity in adolescent Prader-Willi syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2020, v. 25, n. 1, p. 52, doi. 10.6065/apem.2020.25.1.52
- By:
- Publication type:
- Article
Evaluation and management of amenorrhea related to congenital sex hormonal disorders.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2019, v. 24, n. 3, p. 149, doi. 10.6065/apem.2019.24.3.149
- By:
- Publication type:
- Article
A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a vertebral compression fracture.
- Published in:
- 2017
- By:
- Publication type:
- Case Study
Genetics of Prader-Willi syndrome and Prader-Will-Like syndrome.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2016, v. 21, n. 3, p. 126, doi. 10.6065/apem.2016.21.3.126
- By:
- Publication type:
- Article
Incidence trends and associated factors of diabetes mellitus in Korean children and adolescents: a retrospective cohort study in Busan and Gyeongnam.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2015, v. 20, n. 4, p. 206, doi. 10.6065/apem.2015.20.4.206
- By:
- Publication type:
- Article
A novel de novo mutation within PHEX gene in a young girl with hypophosphatemic rickets and review of literature.
- Published in:
- Annals of Pediatric Endocrinology & Metabolism, 2014, v. 19, n. 1, p. 36, doi. 10.6065/apem.2014.19.1.36
- By:
- Publication type:
- Article
Healthcare professionals' perspectives towards the digitalisation of paediatric growth hormone therapies: expert panels in Italy and Korea.
- Published in:
- Frontiers in Endocrinology, 2024, p. 01, doi. 10.3389/fendo.2024.1419667
- By:
- Publication type:
- Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
- Published in:
- Clinical Endocrinology, 2015, v. 83, n. 6, p. 790, doi. 10.1111/cen.12944
- By:
- Publication type:
- Article