Detalhe da pesquisa
1.
Genome-wide association study of preserved ratio impaired spirometry (PRISm).
Eur Respir J
; 63(1)2024 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38097206
2.
Newborn screening for primary carnitine deficiency: who will benefit? - a retrospective cohort study.
J Med Genet
; 60(12): 1177-1185, 2023 Nov 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37487700
3.
FAM13A regulates cellular senescence marker p21 and mitochondrial reactive oxygen species production in airway epithelial cells.
Am J Physiol Lung Cell Mol Physiol
; 325(4): L460-L466, 2023 10 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37605846
4.
Age-associated differences in the human lung extracellular matrix.
Am J Physiol Lung Cell Mol Physiol
; 324(6): L799-L814, 2023 06 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37039368
5.
Epidemiology of Pathogens Listed as Potential Bioterrorism Agents, the Netherlands, 2009â2019.
Emerg Infect Dis
; 29(7): 1-9, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37347519
6.
Presence of Burkholderia pseudomallei in Soil, Nigeria, 2019.
Emerg Infect Dis
; 29(5): 1073-1075, 2023 05.
Artigo
Inglês
| MEDLINE | ID: mdl-37081606
7.
Routine and interval detection of locoregional breast cancer recurrences and risk of subsequent distant metastasis.
Breast Cancer Res Treat
; 197(1): 123-135, 2023 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-36315307
8.
Genome-wide association study of chronic sputum production implicates loci involved in mucus production and infection.
Eur Respir J
; 61(6)2023 06.
Artigo
Inglês
| MEDLINE | ID: mdl-37263751
9.
Diagnosing, discarding, or de-VUSsing: A practical guide to (un)targeted metabolomics as variant-transcending functional tests.
Genet Med
; 25(1): 125-134, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36350326
10.
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Mol Genet Metab
; 140(3): 107688, 2023 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37647829
11.
Longitudinal effects of environmental noise and air pollution exposure on autism spectrum disorder and attention-deficit/hyperactivity disorder during adolescence and early adulthood: The TRAILS study.
Environ Res
; 227: 115704, 2023 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-36940817
12.
Pulmonary Function and Blood DNA Methylation: A Multiancestry Epigenome-Wide Association Meta-analysis.
Am J Respir Crit Care Med
; 206(3): 321-336, 2022 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-35536696
13.
Tularemia Transmission to Humans, the Netherlands, 2011-2021.
Emerg Infect Dis
; 28(4): 883-885, 2022 04.
Artigo
Inglês
| MEDLINE | ID: mdl-35318921
14.
Genetic, biochemical, and clinical spectrum of patients with mitochondrial trifunctional protein deficiency identified after the introduction of newborn screening in the Netherlands.
J Inherit Metab Dis
; 45(4): 804-818, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35383965
15.
Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
J Inherit Metab Dis
; 45(5): 952-962, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35722880
16.
Occupational exposure to gases/fumes and mineral dust affect DNA methylation levels of genes regulating expression.
Hum Mol Genet
; 28(15): 2477-2485, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31152171
17.
COPD-derived fibroblasts secrete higher levels of senescence-associated secretory phenotype proteins.
Thorax
; 76(5): 508-511, 2021 05.
Artigo
Inglês
| MEDLINE | ID: mdl-33273021
18.
Link between increased cellular senescence and extracellular matrix changes in COPD.
Am J Physiol Lung Cell Mol Physiol
; 319(1): L48-L60, 2020 07 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32460521
19.
Does the 48-hour BH4 loading test miss responsive PKU patients?
Mol Genet Metab
; 129(3): 186-192, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31924462
20.
Gray and white matter are both affected in classical galactosemia: An explorative study on the association between neuroimaging and clinical outcome.
Mol Genet Metab
; 131(4): 370-379, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-33199205