Detalhe da pesquisa
1.
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived neuronal networks.
Hum Mol Genet
; 32(14): 2373-2385, 2023 07 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37195288
2.
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2.
J Clin Immunol
; 43(4): 808-818, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36753016
3.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.
Clin Genet
; 103(3): 346-351, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371792
4.
Treatment of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome with tocilizumab in a child and a young adult.
Epilepsia
; 64(6): e87-e92, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36961094
5.
Adolescents' interactive electronic device use, sleep and mental health: a systematic review of prospective studies.
J Sleep Res
; 32(5): e13899, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37029099
6.
Impact of peri-procedural management of direct oral anticoagulants on pocket haematoma after cardiac electronic device implantation: the StimAOD multicentre prospective study.
Europace
; 25(5)2023 05 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-36932714
7.
A deeper dive, a wider pool: Preschool benefits sustain to first grade on a broader set of outcomes.
Child Dev
; 94(5): 1298-1318, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37032515
8.
Protocol to evaluate the effectiveness and cost-effectiveness of an environmental nutrition and physical activity intervention in nurseries (Nutrition and Physical Activity Self Assessment for Child Care - NAP SACC UK): a multicentre cluster randomised controlled trial.
BMC Public Health
; 23(1): 1475, 2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37532982
9.
Maternal Hypertension and Early-Onset Neonatal Neutropenia.
Fetal Pediatr Pathol
; 42(5): 735-745, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37272337
10.
Communication partners experiences of communicating with adults with severe/profound intellectual disability through augmentative and alternative communication: A mixed methods systematic review.
J Intellect Disabil
; 27(4): 1107-1134, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-35850628
11.
Acute service and disability service providers experiences of joint working to improve health care experiences of people with an intellectual disability compared to non-joint working: A mixed-method systematic review.
J Intellect Disabil
; : 17446295231209345, 2023 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864518
12.
Coffee and tea consumption, patient-reported, and clinical outcomes in a longitudinal study of patients with breast cancer.
Cancer
; 128(19): 3552-3563, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913436
13.
Association between physical activity and neoadjuvant chemotherapy completion and pathologic complete response in primary breast cancer: the CANTO study.
Br J Cancer
; 127(5): 886-891, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35715631
14.
Outcome of Temporary Circulatory Support As a Bridge-to-Left Ventricular Assist Device Strategy in Cardiogenic Shock Patients.
Crit Care Med
; 50(5): e426-e433, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34974497
15.
Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.
Genet Med
; 24(1): 179-191, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906456
16.
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genet Med
; 24(3): 681-693, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34906499
17.
Molecular and clinical descriptions of patients with GABAA receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype-phenotype correlation.
Epilepsia
; 63(10): 2519-2533, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35718920
18.
Optimal timing of interval debulking surgery for advanced epithelial ovarian cancer: A retrospective study from the ESME national cohort.
Gynecol Oncol
; 167(1): 11-21, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35970603
19.
Uptake of Recommendations for Posttreatment Cancer-Related Fatigue Among Breast Cancer Survivors.
J Natl Compr Canc Netw
; 20(13)2022 02 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35130491
20.
Environmental and practice factors associated with children's device-measured physical activity and sedentary time in early childhood education and care centres: a systematic review.
Int J Behav Nutr Phys Act
; 19(1): 84, 2022 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-35836231