Detalhe da pesquisa
1.
Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.
Hum Mol Genet
; 32(22): 3123-3134, 2023 11 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37166351
2.
Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Hum Mol Genet
; 32(4): 580-594, 2023 01 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36067010
3.
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?
Brain
; 2024 Apr 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643018
4.
Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes.
Epilepsia
; 64(9): 2260-2273, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37264783
5.
Predicting seizure outcome after epilepsy surgery: Do we need more complex models, larger samples, or better data?
Epilepsia
; 64(8): 2014-2026, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37129087
6.
Genotype-phenotype correlation at codon 1740 of SETD2.
Am J Med Genet A
; 182(9): 2037-2048, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32710489
7.
An evaluation of demographic factors affecting performance in a paediatric membership multiple-choice examination.
Postgrad Med J
; 91(1072): 72-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25617382
8.
Clinical and neurogenetic characterisation of autosomal recessive RBL2-associated progressive neurodevelopmental disorder.
medRxiv
; 2024 May 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746364
9.
Is it possible to implement a rare disease case-finding tool in primary care? A UK-based pilot study.
Orphanet J Rare Dis
; 17(1): 54, 2022 02 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-35172857
10.
L1CAM variants cause two distinct imaging phenotypes on fetal MRI.
Ann Clin Transl Neurol
; 8(10): 2004-2012, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34510796
11.
Nucleocytoplasmic transport of the RNA-binding protein CELF2 regulates neural stem cell fates.
Cell Rep
; 35(10): 109226, 2021 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-34107259
12.
Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management.
Eur J Med Genet
; 63(4): 103785, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31605816
13.
Integrating evidence from neuroimaging and neuropsychological studies of obsessive-compulsive disorder: the orbitofronto-striatal model revisited.
Neurosci Biobehav Rev
; 32(3): 525-49, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-18061263
14.
Effects of gamma-aminobutyric acid-modulating drugs on working memory and brain function in patients with schizophrenia.
Arch Gen Psychiatry
; 64(2): 156-67, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17283283
15.
Neurocognitive endophenotypes of obsessive-compulsive disorder.
Brain
; 130(Pt 12): 3223-36, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17855376
16.
Impaired cognitive flexibility and motor inhibition in unaffected first-degree relatives of patients with obsessive-compulsive disorder.
Am J Psychiatry
; 164(2): 335-8, 2007 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-17267798
17.
Tryptophan depletion disrupts the motivational guidance of goal-directed behavior as a function of trait impulsivity.
Neuropsychopharmacology
; 30(7): 1362-73, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15770237
18.
The effects of puberty on white matter development in boys.
Dev Cogn Neurosci
; 11: 116-28, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25454416
19.
A novel homozygous variant in CANT1 in a patient with Kim-type Desbuquois dysplasia.
Clin Dysmorphol
; 28(4): 219-223, 2019 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31348018
20.
Lifting the veil on trichotillomania.
Am J Psychiatry
; 164(4): 568-74, 2007 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-17403968