Detalhe da pesquisa
1.
Genetics of inborn errors of immunity: Diagnostic strategies and new approaches to CNV detection.
Eur J Clin Invest
; 54(6): e14191, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38440843
2.
Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke.
Brain
; 145(7): 2394-2406, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35213696
3.
Identification and Functional Analysis of APOB Variants in a Cohort of Hypercholesterolemic Patients.
Int J Mol Sci
; 24(8)2023 Apr 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37108800
4.
Whole Exome Sequencing of 20 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Cataracts.
Int J Mol Sci
; 24(14)2023 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-37511188
5.
Whole-Exome Sequencing of 21 Families: Candidate Genes for Early-Onset High Myopia.
Int J Mol Sci
; 24(21)2023 Oct 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-37958660
6.
Hereditary spastic paraplegia associated with a novel homozygous intronic noncanonical splice site variant in the AP4B1 gene.
Ann Hum Genet
; 86(3): 109-118, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34927723
7.
Burden of liver disease progression in hospitalized patients with type 2 diabetes mellitus.
J Hepatol
; 76(2): 265-274, 2022 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34606913
8.
Advances in Flexible Metallic Transparent Electrodes.
Small
; 18(19): e2106006, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35195360
9.
Broadening the phenotypic spectrum of EVEN-PLUS syndrome through identification of HSPA9 pathogenic variants in the original EVE dysplasia family and two sibs with milder facial phenotype.
Am J Med Genet A
; 188(9): 2819-2824, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35779070
10.
Early Neurological Change After Ischemic Stroke Is Associated With 90-Day Outcome.
Stroke
; 52(1): 132-141, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33317415
11.
Novel SLC12A2-ROS1 Fusion in Non-Small Cell Lung Cancer with a Significant Response to Crizotinib: The Importance of Choosing the Appropriate Next-Generation Sequencing Assay.
Oncologist
; 26(6): e908-e912, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682977
12.
Planar and Transparent Memristive Devices Based on Titanium Oxide Coated Silver Nanowire Networks with Tunable Switching Voltage.
Small
; 17(21): e2007344, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33825334
13.
Delineation of the clinical and radiological features of Stuve-Wiedemann syndrome childhood survivors, four new cases and review of the literature.
Am J Med Genet A
; 185(3): 856-865, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33305909
14.
PATJ Low Frequency Variants Are Associated With Worse Ischemic Stroke Functional Outcome.
Circ Res
; 124(1): 114-120, 2019 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30582445
15.
Effects of non-homogeneity and oxide coating on silver nanowire networks under electrical stress: comparison between experiment and modeling.
Nanotechnology
; 32(44)2021 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34374663
16.
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemia.
Hum Mutat
; 40(8): 1181-1190, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31106925
17.
Expanding the Spectrum of Skin Neoplasms in Muir-Torre Syndrome: Beyond Sebaceous Tumours.
Am J Dermatopathol
; 46(3): 189-191, 2024 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38354387
18.
SnO2 Films Deposited by Ultrasonic Spray Pyrolysis: Influence of Al Incorporation on the Properties.
Molecules
; 24(15)2019 Jul 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-31370316
19.
Evaluation of the effect of Lactobacillus reuteri V3401 on biomarkers of inflammation, cardiovascular risk and liver steatosis in obese adults with metabolic syndrome: a randomized clinical trial (PROSIR).
BMC Complement Altern Med
; 18(1): 306, 2018 Nov 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-30453950
20.
[Functional status, self-rated health and level of physical activity of patients with osteoarthritis]. / Situación funcional, autopercepción de salud y nivel de actividad física en pacientes con artrosis.
Aten Primaria
; 49(4): 224-232, 2017 Apr.
Artigo
em Espanhol
| MEDLINE | ID: mdl-27469248