Detalhe da pesquisa
1.
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders.
Am J Hum Genet
; 110(2): 251-272, 2023 02 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36669495
2.
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
J Inherit Metab Dis
; 46(3): 482-519, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36221165
3.
Gaps in clinical research in frontotemporal dementia: A call for diversity and disparities-focused research.
Alzheimers Dement
; 19(12): 5817-5836, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37270665
4.
Psychological Outcomes and Mechanisms of Mindfulness-Based Training for Generalised Anxiety Disorder: A Systematic Review and Meta-Analysis.
Curr Psychol
; : 1-23, 2023 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37359641
5.
RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities.
Am J Hum Genet
; 105(1): 108-121, 2019 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31204009
6.
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
em Inglês
| MEDLINE | ID: mdl-35383965
7.
The complex relationship between depression and progression to incident cognitive impairment across race and ethnicity.
Alzheimers Dement
; 18(12): 2593-2602, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35213795
8.
Col4a3-/- Mice on Balb/C Background Have Less Severe Cardiorespiratory Phenotype and SGLT2 Over-Expression Compared to 129x1/SvJ and C57Bl/6 Backgrounds.
Int J Mol Sci
; 23(12)2022 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743114
9.
Liver and/or kidney transplantation in amino and organic acid-related inborn errors of metabolism: An overview on European data.
J Inherit Metab Dis
; 44(3): 593-605, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32996606
10.
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
J Inherit Metab Dis
; 44(1): 9-21, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32412122
11.
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
J Inherit Metab Dis
; 44(3): 566-592, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33595124
12.
SufT is required for growth of Mycobacterium smegmatis under iron limiting conditions.
Microbiology (Reading)
; 166(3): 296-305, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31860439
13.
Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?
J Inherit Metab Dis
; 43(3): 424-437, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31828787
14.
Chemical Elements in Electronic Cigarette Solvents and Aerosols Inhibit Mitochondrial Reductases and Induce Oxidative Stress.
Nicotine Tob Res
; 22(Suppl 1): S14-S24, 2020 12 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33320250
15.
Wild-type and mutant (G2019S) leucine-rich repeat kinase 2 (LRRK2) associate with subunits of the translocase of outer mitochondrial membrane (TOM) complex.
Exp Cell Res
; 375(2): 72-79, 2019 02 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30597143
16.
Recruitment of African American and Non-Hispanic White Older Adults for Alzheimer Disease Research Via Traditional and Social Media: a Case Study.
J Cross Cult Gerontol
; 35(3): 329-339, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32712751
17.
Modeling post-translational modifications and cancer-associated mutations that impact the heterochromatin protein 1α-importin α heterodimers.
Proteins
; 87(11): 904-916, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152607
18.
Correction: Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(9): 2159-2164, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30464259
19.
Putting genome-wide sequencing in neonates into perspective.
Genet Med
; 21(5): 1074-1082, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287924
20.
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment.
Mol Genet Metab
; 126(4): 397-405, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30827756