Detalhe da pesquisa
1.
WT1 Pulsed Human CD141+ Dendritic Cell Vaccine Has High Potential in Solid Tumor-Targeted Immunotherapy.
Int J Mol Sci
; 24(2)2023 Jan 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36675017
2.
A novel splicing variant in GALNS in mucopolysaccharidosis IVA and the necessity of re-evaluating primer sequences.
Ann Hum Genet
; 86(6): 361-368, 2022 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-36000290
3.
Hypomorphic Mutations in TONSL Cause SPONASTRIME Dysplasia.
Am J Hum Genet
; 104(3): 439-453, 2019 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773278
4.
The longitudinal effect of oxcarbazepine on thyroid function in children and adolescents with epilepsy.
Epilepsia
; 63(12): 3148-3155, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36073252
5.
Multiple endocrine neoplasia type 2 and autoimmune polyendocrine syndromes (type 1 diabetes mellitus and Graves' disease) in a 16-year-old male with Kabuki syndrome.
Endocr J
; 69(10): 1211-1216, 2022 Oct 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35676000
6.
Clinical characteristics, treatment outcomes, and occurrence of diabetes mellitus after pancreatic resection of solid pseudopapillary tumor in children and adolescents: A single institution experience with 51 cases.
Pancreatology
; 21(3): 509-514, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33509684
7.
Identification of a novel mutation in EXT2 in a fourth-generation Korean family with multiple osteochondromas and overview of mutation spectrum.
Ann Hum Genet
; 83(3): 160-170, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30730578
8.
BGN Mutations in X-Linked Spondyloepimetaphyseal Dysplasia.
Am J Hum Genet
; 98(6): 1243-1248, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27236923
9.
The efficacy of intracerebroventricular idursulfase-beta enzyme replacement therapy in mucopolysaccharidosis II murine model: heparan sulfate in cerebrospinal fluid as a clinical biomarker of neuropathology.
J Inherit Metab Dis
; 41(6): 1235-1246, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29978271
10.
HDR syndrome with a novel mutation in GATA3 mimicking a congenital X-linked stapes gusher: a case report.
BMC Med Genet
; 18(1): 121, 2017 10 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-29073906
11.
AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II.
Mol Genet Metab
; 117(4): 447-55, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26857995
12.
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.
BMC Med Genet
; 17(1): 58, 2016 08 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27520059
13.
Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.
Hum Mutat
; 36(2): 191-5, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25402547
14.
Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome.
Mol Genet Metab
; 114(2): 156-60, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219292
15.
Disease-specific growth charts for Korean infants with Prader-Willi syndrome.
Am J Med Genet A
; 167A(1): 86-94, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25339260
16.
Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein.
Mol Pharm
; 12(10): 3759-65, 2015 Oct 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26370910
17.
Disease-specific Growth Charts of Marfan Syndrome Patients in Korea.
J Korean Med Sci
; 30(7): 911-6, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26130954
18.
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
J Korean Med Sci
; 29(2): 254-60, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24550654
19.
Cartilage-hair hypoplasia-anauxetic dysplasia spectrum disorders harboring RMRP mutations in two Korean children: A case report.
Medicine (Baltimore)
; 103(21): e37247, 2024 May 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38787970
20.
Tandem High-Dose Chemotherapy Increases the Risk of Secondary Malignant Neoplasm in Pediatric Solid Tumors.
Cancer Res Treat
; 56(2): 642-651, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-37997325