Detalhe da pesquisa
1.
The clinical, imaging, pathological and genetic landscape of bottom-of-sulcus dysplasia.
Brain
; 147(4): 1264-1277, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37939785
2.
Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1647-1663, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36117209
3.
Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.
Am J Hum Genet
; 107(5): 977-988, 2020 11 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33058759
4.
Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.
Brain
; 145(2): 555-568, 2022 04 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022648
5.
Transcriptome analysis of a ring chromosome 20 patient cohort.
Epilepsia
; 62(1): e22-e28, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33207017
6.
Variations in hemoglobin measurement and eligibility criteria across blood donation services are associated with differing low-hemoglobin deferral rates: a BEST Collaborative study.
Transfusion
; 60(3): 544-552, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32034925
7.
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
Epilepsia
; 61(4): e23-e29, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32162308
8.
Cationic HDL mimetics enhance in vivo delivery of self-replicating mRNA.
Nanomedicine
; 24: 102154, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31982617
9.
Single-Molecule Fluorescence Detection of the Epidermal Growth Factor Receptor in Membrane Discs.
Biochemistry
; 58(4): 286-294, 2019 01 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-29553754
10.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Genet Med
; 21(11): 2532-2542, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31036918
11.
Correction: Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development.
Mol Psychiatry
; 28(4): 1664-1666, 2023 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-36658335
12.
Lipid and Protein Transfer between Nanolipoprotein Particles and Supported Lipid Bilayers.
Langmuir
; 35(37): 12071-12078, 2019 09 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-31442053
13.
Cell-free production of a functional oligomeric form of a Chlamydia major outer-membrane protein (MOMP) for vaccine development.
J Biol Chem
; 292(36): 15121-15132, 2017 09 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28739800
14.
Standardized outcome measures for pregnancy and childbirth, an ICHOM proposal.
BMC Health Serv Res
; 18(1): 953, 2018 Dec 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30537958
15.
Locating Reactive Groups on Nanomaterials with Gold Nanoclusters: Toward a Surface Reactive Site Map.
Langmuir
; 33(20): 5086-5097, 2017 05 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-28463506
16.
Re-directing bacterial microcompartment systems to enhance recombinant expression of lysis protein E from bacteriophage ÏX174 in Escherichia coli.
Microb Cell Fact
; 16(1): 71, 2017 Apr 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-28446197
17.
Placental growth factor testing in suspected pre-eclampsia.
Lancet
; 395(10221): 335-336, 2020 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32007162
18.
Low-dose radiation affects cardiac physiology: gene networks and molecular signaling in cardiomyocytes.
Am J Physiol Heart Circ Physiol
; 309(11): H1947-63, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26408534
19.
Night-time lighting alters the composition of marine epifaunal communities.
Biol Lett
; 11(4): 20150080, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25926694
20.
Foetal supraventricular tachycardia with hydrops fetalis: a role for direct intraperitoneal amiodarone.
Cardiol Young
; 25(3): 447-53, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24811422