Detalhe da pesquisa
1.
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia.
Am J Hum Genet
; 109(10): 1828-1849, 2022 10 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36084634
2.
Processing speed mediates the relationship between DDR1 and psychosocial functioning in euthymic patients with bipolar disorder presenting psychotic symptoms.
Mol Psychiatry
; 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374360
3.
Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.
J Med Genet
; 2024 Mar 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38531627
4.
Novel genes and sex differences in COVID-19 severity.
Hum Mol Genet
; 31(22): 3789-3806, 2022 11 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35708486
5.
Ocular Mucous Membrane Pemphigoid: The Effect of Risk Factors at Presentation on Treatment Outcomes.
Ophthalmology
; 2024 Mar 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38452874
6.
Testing the modulation of self-related automatic and others-related controlled processing by chronotype and time-of-day.
Conscious Cogn
; 118: 103633, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38199190
7.
Self-prioritization effect in the attentional blink paradigm: Attention-based or familiarity-based effect?
Conscious Cogn
; 117: 103607, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38000192
8.
Consolidating the association of biallelic MAPKAPK5 pathogenic variants with a distinct syndromic neurodevelopmental disorder.
J Med Genet
; 60(8): 791-796, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-36581449
9.
Influence of a football match on landing biomechanics and jump performance in female football players.
Scand J Med Sci Sports
; 34(1): e14518, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-37828778
10.
Comparison of male and female non-refugee immigrants with psychosis: clinical, sociodemographic, and migration-related differences and impact on stress.
Arch Womens Ment Health
; 2024 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38374484
11.
Misophonia matters: A case study of the role of brain imaging in debates over new diagnoses.
Sociol Health Illn
; 46(S1): 92-109, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37329250
12.
Depressive-Like Effects of Foreclosing: A Cross-Sectional Study of Hair Cortisol Concentration.
Psychopathology
; 57(1): 10-17, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37331349
13.
Lessons Learned From Ocular Graft versus Host Disease: An Ocular Surface Inflammatory Disease of Known Time of Onset.
Eye Contact Lens
; 50(5): 212-221, 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38518064
14.
Evaluation of gender-affirming care experiences of transgender and gender diverse patients within a LGBTQ+ community pharmacy.
J Am Pharm Assoc (2003)
; 64(1): 253-259.e2, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-37940094
15.
Unveiling Novel Urease Inhibitors for Helicobacter pylori: A Multi-Methodological Approach from Virtual Screening and ADME to Molecular Dynamics Simulations.
Int J Mol Sci
; 25(4)2024 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38396647
16.
Technical and tactical evolution of the offensive team sequences in LaLiga between 2008 and 2021. Is Spanish football now a more associative game?
Biol Sport
; 41(2): 105-113, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38524831
17.
Hamstring muscle injury is preceded by a short period of higher running demands in professional football players.
Biol Sport
; 41(1): 227-233, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38188100
18.
Changes in physical and technical match performance variables in football players promoted from the Spanish Second Division to the First Division.
Biol Sport
; 41(1): 217-225, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38188124
19.
Role of cyclin-dependent kinase 5 in psychosis and the modulatory effects of cannabinoids.
Neurobiol Dis
; 176: 105942, 2023 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36473591
20.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
Am J Hum Genet
; 107(5): 989-999, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33053334