Detalhe da pesquisa
1.
Clinical and molecular characteristics of Korean patients with Kabuki syndrome.
J Hum Genet
; 2024 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38824232
2.
A 10-year follow-up of high-dose ambroxol treatment combined with enzyme replacement therapy for neuropathic Gaucher disease.
Am J Hematol
; 99(7): 1396-1399, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38562044
3.
Evidence for reciprocal evolution of the global repressor Mlc and its cognate phosphotransferase system sugar transporter.
Environ Microbiol
; 24(1): 122-136, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34708498
4.
Potent suppression of both spontaneous and carcinogen-induced colitis-associated colorectal cancer in mice by dietary celastrol supplementation.
Carcinogenesis
; 39(1): 36-46, 2018 01 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29069290
5.
Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency through molecular genetic analysis of the CYP21A2 gene.
Ann Pediatr Endocrinol Metab
; 29(1): 54-59, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38461806
6.
Impact of Early Diagnostic and Therapeutic Interventions and Clinical Course in Children and Adolescents with Multiple Endocrine Neoplasia Types 1 and 2.
Exp Clin Endocrinol Diabetes
; 132(1): 39-46, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37973156
7.
Identification of a complex intrachromosomal inverted insertion in the long arm of chromosome 9 as a cause of tuberous sclerosis complex in a Korean family.
Mol Genet Genomic Med
; 12(3): e2330, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38265426
8.
Long-term endocrine sequelae after hematopoietic stem cell transplantation in children and adolescents.
Ann Pediatr Endocrinol Metab
; 29(2): 109-118, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271994
9.
Clinical and genetic characteristics of three patients with congenital insensitivity to pain with anhidrosis: Case reports and a review of the literature.
Mol Genet Genomic Med
; 12(4): e2430, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38581121
10.
Clinical outcomes and genotype-phenotype correlations in patients with complete and partial androgen insensitivity syndromes.
Ann Pediatr Endocrinol Metab
; 28(3): 184-192, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-36731508
11.
Clinical Characteristics and Long-Term Outcomes of Adrenal Tumors in Children and Adolescents.
Exp Clin Endocrinol Diabetes
; 131(10): 515-522, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37437600
12.
Mutation spectrum and frequency of copy number variations of the ANOS1 gene in patients with Kallmann syndrome or normosmic isolated hypogonadotropic hypogonadism.
Endocr Connect
; 12(5)2023 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36917044
13.
Efficacy and safety of intravenous pamidronate infusion for treating osteoporosis in children and adolescents.
Ann Pediatr Endocrinol Metab
; 26(2): 105-111, 2021 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-34218632