Detalhe da pesquisa
1.
Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Mol Med
; 28(1): 38, 2022 03 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35346031
2.
Association between ARID2 and RAS-MAPK pathway in intellectual disability and short stature.
J Med Genet
; 58(11): 767-777, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33051312
3.
Comparison of Initial Presentation of Pediatric Diabetes Before and During the Coronavirus Disease 2019 Pandemic Era.
J Korean Med Sci
; 37(22): e176, 2022 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35668686
4.
Efficacy of Triptorelin 3-Month Depot Compared to 1-Month Depot for the Treatment of Korean Girls with Central Precocious Puberty in Single Tertiary Center.
J Korean Med Sci
; 36(34): e219, 2021 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34463062
5.
Phenotype categorization of neurofibromatosis type I and correlation to NF1 mutation types.
J Hum Genet
; 65(2): 79-89, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31776437
6.
Serum Levels of Thyroid Stimulating Hormone and Luteinizing Hormone Are Decreased in Girls with Central Precocious Puberty after 12-Month GnRH Agonist Treatment.
Tohoku J Exp Med
; 252(3): 193-197, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-33087637
7.
Lysinuric protein intolerance with homozygous SLC7A7 mutation caused by maternal uniparental isodisomy of chromosome 14.
J Hum Genet
; 64(11): 1137-1140, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31427715
8.
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
J Med Genet
; 54(11): 771-780, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28835480
9.
Clinical and genetic characteristics of patients with fatty acid oxidation disorders identified by newborn screening.
BMC Pediatr
; 18(1): 103, 2018 03 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29519241
10.
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Mol Med
; 23: 149-154, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28467518
11.
DEND Syndrome with Heterozygous KCNJ11 Mutation Successfully Treated with Sulfonylurea.
J Korean Med Sci
; 32(6): 1042-1045, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28480665
12.
Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes.
J Hum Genet
; 61(11): 923-929, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27334365
13.
Growth trajectories of children born preterm and full term with low birth weight to preschool ages: A nationwide study.
J Clin Endocrinol Metab
; 2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38563465
14.
Effectiveness of the triptorelin stimulation test compared with the classic gonadotropin-releasing hormone stimulation test in diagnosing central precocious puberty in girls.
Ann Pediatr Endocrinol Metab
; 29(2): 90-94, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38712492
15.
Long-term efficacy of triptorelin 3-month depot in girls with central precocious puberty.
Ann Pediatr Endocrinol Metab
; 2024 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38291760
16.
Obesity in Children and Adolescents: 2022 Update of Clinical Practice Guidelines for Obesity by the Korean Society for the Study of Obesity.
J Obes Metab Syndr
; 33(1): 11-19, 2024 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-38193204
17.
Brain magnetic resonance imaging (MRI) findings in central precocious puberty patients: is routine MRI necessary for newly diagnosed patients?
Ann Pediatr Endocrinol Metab
; 28(3): 200-205, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798894
18.
2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents.
Ann Pediatr Endocrinol Metab
; 28(3): 168-177, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37798893
19.
Evaluation and Treatment of Obesity and Its Comorbidities: 2022 Update of Clinical Practice Guidelines for Obesity by the Korean Society for the Study of Obesity.
J Obes Metab Syndr
; 32(1): 1-24, 2023 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-36945077
20.
Single Point Insulin Sensitivity Estimator for predicting type 2 diabetes mellitus in obese adolescents.
Ann Pediatr Endocrinol Metab
; 27(3): 201-206, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-35073668