Detalhe da pesquisa
1.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31530938
2.
Short stature in a child with a novel Aggrecan gene variant: A case report.
Pediatr Int
; 64(1): e15116, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35396811
3.
Intraluminal duodenal diverticulum with repeated vomiting and acute pancreatitis.
Pediatr Int
; 62(9): 1109-1110, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32808387
4.
Genotype-Phenotype Correlations in Thirty Japanese Patients with Congenital Hypothyroidism Attributable to TG Defects.
J Clin Endocrinol Metab
; 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38373250
5.
Properties of Staphylococcus lugdunensis in Children.
Glob Pediatr Health
; 8: 2333794X211044796, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34514060
6.
A novel SOX10 variant in a Japanese girl with Waardenburg syndrome type 4C and Kallmann syndrome.
Hum Genome Var
; 7: 30, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33082981
7.
Brain Abscess Associated with Polymicrobial Infection after Intraoral Laceration: A Pediatric Case Report.
Case Rep Pediatr
; 2020: 8304302, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32231839
8.
Malignant Ovarian Steroid Cell Tumor, Not Otherwise Specified, Causes Virilization in a 4-Year-Old Girl: A Case Report and Literature Review.
Case Rep Oncol
; 13(1): 358-364, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32355490
9.
Adrenal crisis during a trip in a young child with septo-optic dysplasia.
Clin Pediatr Endocrinol
; 33(2): 101-103, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38572384
10.
Acanthosis nigricans in a Japanese boy with hypochondroplasia due to a K650T mutation in FGFR3.
Clin Pediatr Endocrinol
; 26(4): 223-228, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29026271
11.
Transient central diabetes insipidus after cranioplasty for craniosynostosis in an infant with septo-optic dysplasia.
Clin Pediatr Endocrinol
; 31(1): 50-53, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35002069
12.
Endoplasmic reticulum stress induced by tunicamycin increases resistin messenger ribonucleic acid through the pancreatic endoplasmic reticulum eukaryotic initiation factor 2α kinase-activating transcription factor 4-CAAT/enhancer binding protein-α homologous protein pathway in THP-1 human monocytes.
J Diabetes Investig
; 7(3): 312-23, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27330716