Detalhe da pesquisa
1.
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
2.
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
3.
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
4.
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
5.
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
6.
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
7.
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
8.
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
9.
Familial ApoB-specific familial hypobetalipoproteinemia in a patient with non-classical congenital adrenal hyperplasia. / Hipobetalipoproteinemia familiar ApoB específica en una paciente con hiperplasia suprarrenal congénita no clásica.
Clin Investig Arterioscler
; 36(3): 128-132, 2024.
Artigo
em Inglês, Espanhol
| MEDLINE | ID: mdl-38195282
10.
[Analysis of cardiovascular risk factors in the stroke code. An approach in advanced ages.] / Análisis de los factores de riesgo cardiovascular en el código ictus. Una aproximación en edades avanzadas.
Rev Esp Salud Publica
; 972023 Feb 09.
Artigo
em Espanhol
| MEDLINE | ID: mdl-36756943
11.
MiR-151a: a robust endogenous control for normalizing small extracellular vesicle cargo in human cancer.
Biomark Res
; 11(1): 94, 2023 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37864266
12.
Molecular diagnosis of cystic fibrosis by RNA obtained from nasal epithelial cells.
J Cyst Fibros
; 2023 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-38151412
13.
Whole-Exome Sequencing of 24 Spanish Families: Candidate Genes for Non-Syndromic Pediatric Keratoconus.
Genes (Basel)
; 14(10)2023 09 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-37895187
14.
Impact of COVID-19 on University Students: An Analysis of Its Influence on Psychological and Academic Factors.
Int J Environ Res Public Health
; 19(16)2022 08 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36012067
15.
Internet Addiction in the Web of Science Database: A Review of the Literature with Scientific Mapping.
Int J Environ Res Public Health
; 17(8)2020 04 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-32316177
16.
Familial hypercholesterolemia: A single-nucleotide variant (SNV) in mosaic at the low density lipoprotein receptor (LDLR).
Atherosclerosis
; 311: 37-43, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32937241
17.
Loss-of-function mutation of PCSK9 as a protective factor in the clinical expression of familial hypercholesterolemia: A case report.
Medicine (Baltimore)
; 99(34): e21754, 2020 Aug 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-32846800
18.
Impact of Problematic Smartphone Use and Instagram Use Intensity on Self-Esteem with University Students from Physical Education.
Int J Environ Res Public Health
; 17(12)2020 06 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-32560447
19.
Use of Instagram by Pre-Service Teacher Education: Smartphone Habits and Dependency Factors.
Int J Environ Res Public Health
; 17(11)2020 06 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32521781
20.
Effect of the Flipped Classroom and Gamification Methods in the Development of a Didactic Unit on Healthy Habits and Diet in Primary Education.
Nutrients
; 12(8)2020 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-32722228