Detalhe da pesquisa
1.
Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.
Ann Hum Genet
; 88(2): 101-112, 2024 03.
Artigo
Inglês
| MEDLINE | ID: mdl-37795942
2.
Recombinant growth hormone therapy in children with Turner Syndrome in Korea: a phase III Randomized Trial.
BMC Endocr Disord
; 21(1): 243, 2021 Dec 10.
Artigo
Inglês
| MEDLINE | ID: mdl-34893062
3.
Lower albumin level and longer disease duration are risk factors of acute kidney injury in hospitalized children with nephrotic syndrome.
Pediatr Nephrol
; 36(3): 701-709, 2021 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32888043
4.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Nephrol Dial Transplant
; 33(1): 85-94, 2018 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27708066
5.
Clinical use of whole exome sequencing in children with developmental delay/intellectual disability.
Pediatr Neonatol
; 2024 Jan 23.
Artigo
Inglês
| MEDLINE | ID: mdl-38281861
6.
Evaluation of cardiovascular anomalies in patients with asymptomatic turner syndrome using multidetector computed tomography.
J Korean Med Sci
; 28(8): 1169-73, 2013 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-23960443
7.
Pontocerebellar Hypoplasia 7 with Novel Compound Heterozygous Variants of TOE1 in a Boy with Micropenis, Developmental Delay, and Ataxia: The First Korean Case Report.
Ann Clin Lab Sci
; 53(5): 806-810, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37945020
8.
Genotype-phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea.
Sci Rep
; 13(1): 6827, 2023 04 26.
Artigo
Inglês
| MEDLINE | ID: mdl-37100867
9.
Dense deposit disease in Korean children: a multicenter clinicopathologic study.
J Korean Med Sci
; 27(10): 1215-21, 2012 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-23091320
10.
A Novel Frameshift CASK Variant in a 6-Month-Old Korean Female Infant with Global Developmental Delay, Progressive Microcephaly, and Pontocerebellar Hypoplasia: A Case Report.
Ann Clin Lab Sci
; 52(3): 488-493, 2022 May.
Artigo
Inglês
| MEDLINE | ID: mdl-35777792
11.
Response to growth hormone according to provocation test results in idiopathic short stature and idiopathic growth hormone deficiency.
Ann Pediatr Endocrinol Metab
; 27(1): 37-43, 2022 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-35038835
12.
Refractory hypertension and isosexual pseudoprecocious puberty associated with renin-secreting ovarian steroid cell tumor in a girl.
J Korean Med Sci
; 26(6): 836-8, 2011 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-21655074
13.
Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia.
Ann Clin Lab Sci
; 51(3): 422-425, 2021 May.
Artigo
Inglês
| MEDLINE | ID: mdl-34162574
14.
Efficacy and safety of the recombinant human growth hormone in short children born small for gestational age: A randomized, multicentre, comparative phase III trial.
Medicine (Baltimore)
; 100(30): e26711, 2021 Jul 30.
Artigo
Inglês
| MEDLINE | ID: mdl-34397702
15.
The role of growth hormone device optimization in patient-reported outcomes: real-world evidence from South Korea.
Expert Rev Med Devices
; 18(1): 91-106, 2021 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-33307881
16.
Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.
J Bone Miner Res
; 36(2): 283-297, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-32916022
17.
Effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome.
Ann Pediatr Endocrinol Metab
; 25(2): 126-131, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32615693
18.
A Novel Missense Mutation (L44V) of PAX2 Associated with Adult-Onset End-Stage Renal Disease and No Syndromic Features.
Ann Clin Lab Sci
; 50(5): 687-690, 2020 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-33067217
19.
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.
Ann Pediatr Endocrinol Metab
; 25(4): 272-276, 2020 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-32871652
20.
First Korean Case of Coffin-Siris Syndrome with a Novel Frameshift ARID1B Mutation.
Ann Clin Lab Sci
; 50(1): 140-145, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32161024