Detalhe da pesquisa
1.
Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
J Inherit Metab Dis
; 47(2): 220-229, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38375550
2.
Missense MED12 variants in 22 males with intellectual disability: From nonspecific symptoms to complete syndromes.
Am J Med Genet A
; 191(1): 135-143, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36271811
3.
Thrombocytopenia and insufficient thrombopoietin production in human small-for-gestational-age infants.
Pediatr Res
; 93(3): 619-624, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-35568734
4.
Long-read whole genome sequencing reveals HOXD13 alterations in synpolydactyly.
Hum Mutat
; 43(2): 189-199, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34859533
5.
Case report and review of the literature: immune dysregulation in a large familial cohort due to a novel pathogenic RELA variant.
Rheumatology (Oxford)
; 62(1): 347-359, 2022 12 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35412596
6.
A Meta-Analysis of Randomized Controlled Trials of the Effects of Soy Intake on Inflammatory Markers in Postmenopausal Women.
J Nutr
; 152(1): 5-15, 2022 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34642749
7.
Analysis of spot urine biomarkers and association with body weight in Japanese elementary schoolchildren.
Eur J Pediatr
; 181(11): 3879-3888, 2022 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-36097199
8.
Grading of Japanese Diet Intakes by 24-Hour Urine Analysis of Taurine and Soy Isoflavones in Relation to Cardiovascular Risks.
Adv Exp Med Biol
; 1370: 173-184, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35882793
9.
Health Effects of Soy Isoflavones and Green Tea Catechins on Cancer and Cardiovascular Diseases Based on Urinary Biomarker Levels.
Molecules
; 27(24)2022 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36558031
10.
Acetaminophen elevates unbound bilirubin levels by the glucose oxidase-peroxidase method.
Pediatr Int
; 63(9): 1069-1074, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33464662
11.
Mutation of complement factor B causing massive fluid-phase dysregulation of the alternative complement pathway can result in atypical hemolytic uremic syndrome.
Kidney Int
; 98(5): 1265-1274, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32540405
12.
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG.
Genet Med
; 22(6): 1102-1107, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32103184
13.
Alteration of oral flora in Mongolian patients with Behçet's disease: a multicentre study.
Clin Exp Rheumatol
; 38 Suppl 127(5): 80-85, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33331270
14.
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(3): 764-765, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30275510
15.
Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation.
Genet Med
; 21(4): 867-876, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30190611
16.
Effect of prematurity on genome wide methylation in the placenta.
BMC Med Genet
; 20(1): 116, 2019 06 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-31253109
17.
Corticotrophin-releasing hormone stimulation tests in late-onset circulatory collapse.
Pediatr Int
; 61(11): 1114-1119, 2019 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-31281996
18.
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(5): 100803, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920474
19.
Non-alcoholic steatohepatitis aggravates nitric oxide synthase inhibition-induced arteriosclerosis in SHRSP5/Dmcr rat model.
Int J Exp Pathol
; 99(6): 282-294, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30680827
20.
The effects of fermented milk containing Lactococcus lactis subsp. cremoris FC on defaecation in healthy young Japanese women: a double-blind, placebo-controlled study.
Int J Food Sci Nutr
; 69(6): 762-769, 2018 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-29336182