Detalhe da pesquisa
1.
Biologics (mepolizumab and omalizumab) induced remission in severe asthma patients.
Allergy
; 79(2): 384-392, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37632144
2.
Temporal Quantitative Proteomic and Phosphoproteomic Profiling of SH-SY5Y and IMR-32 Neuroblastoma Cells during All-Trans-Retinoic Acid-Induced Neuronal Differentiation.
Int J Mol Sci
; 25(2)2024 Jan 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38256121
3.
Trait profiles in difficult-to-treat asthma: Clinical impact and response to systematic assessment.
Allergy
; 78(9): 2418-2427, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-36940306
4.
A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Am J Med Genet A
; 191(6): 1599-1606, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36896486
5.
MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases.
J Inherit Metab Dis
; 46(2): 313-325, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651519
6.
Thunderstorm asthma in seasonal allergic rhinitis: The TAISAR study.
J Allergy Clin Immunol
; 149(5): 1607-1616, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34774618
7.
Eye tracking: empirical foundations for a minimal reporting guideline.
Behav Res Methods
; 55(1): 364-416, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35384605
8.
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Mol Genet Metab
; 135(1): 63-71, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34991945
9.
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertain.
Mol Genet Metab
; 137(1-2): 62-67, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926322
10.
Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB.
J Pediatr
; 249: 50-58.e2, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35709957
11.
"I Don't Want to Spend the Rest of my Life Only Going to a Gender Wellness Clinic": Healthcare Experiences of Patients of a Comprehensive Transgender Clinic.
J Gen Intern Med
; 37(13): 3396-3403, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35112278
12.
Laryngeal hypersensitivity and abnormal cough response during mannitol bronchoprovocation challenge.
Respirology
; 27(1): 48-55, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34617364
13.
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Intern Med J
; 52(1): 110-120, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34505344
14.
Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055180
15.
Financial hardship is associated with lower uptake of colorectal, breast, and cervical cancer screenings.
Cancer Causes Control
; 32(10): 1173-1183, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-34283327
16.
Acute liver dysfunction with delayed peak of serum aminotransferase levels as a presentation of ornithine transcarbamylase deficiency in females.
Am J Med Genet A
; 185(3): 909-915, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33369132
17.
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
J Inherit Metab Dis
; 44(1): 148-163, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32681750
18.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
19.
The role of preoperative anemia in patients undergoing colectomy for diverticular disease: does surgical urgency matter?
Int J Colorectal Dis
; 36(11): 2463-2470, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34014356
20.
The medical pause: Importance, processes and training.
Med Educ
; 55(10): 1152-1160, 2021 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-33772840