Detalhe da pesquisa
1.
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals.
J Hum Genet
; 69(5): 187-196, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38355957
2.
Genetic diagnosis of Duchenne and Becker muscular dystrophy through mRNA analysis: new splicing events.
J Med Genet
; 60(6): 615-619, 2023 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-36535754
3.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant.
J Med Genet
; 60(10): 965-973, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37197784
4.
N-Type Ca Channel in Epileptic Syndromes and Epilepsy: A Systematic Review of Its Genetic Variants.
Int J Mol Sci
; 24(7)2023 Mar 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-37047073
5.
Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy.
Neuropediatrics
; 53(5): 376-380, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35512844
6.
Intraoperative Indocyanine Green Dye Use in Ovarian Torsion: A Feasibility Study.
J Minim Invasive Gynecol
; 29(6): 738-742, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35085836
7.
CfDNA Measurement as a Diagnostic Tool for the Detection of Brain Somatic Mutations in Refractory Epilepsy.
Int J Mol Sci
; 23(9)2022 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-35563270
8.
Functional analysis of two novel TBX5 variants present in individuals with Holt-Oram syndrome with different clinical manifestations.
Mol Genet Genomics
; 296(4): 809-821, 2021 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-33866394
9.
Analysis of the assessment of antimicrobial susceptibility. Non-typhoid Salmonella in meat and meat products as model (systematic review).
BMC Microbiol
; 21(1): 223, 2021 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34340654
10.
Pediatric multisystem SARS COV2 with versus without cardiac involvement: a multicenter study from Latin America.
Eur J Pediatr
; 180(9): 2879-2888, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-33791862
11.
Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature.
Int J Mol Sci
; 22(11)2021 May 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-34070602
12.
Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
Ann Neurol
; 83(6): 1105-1124, 2018 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29691892
13.
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
Neurogenetics
; 18(4): 245-250, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-28975462
14.
New ATP8A2 gene mutations associated with a novel syndrome: encephalopathy, intellectual disability, severe hypotonia, chorea and optic atrophy.
Neurogenetics
; 17(4): 259-263, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27679995
15.
Terminal protein-primed amplification of heterologous DNA with a minimal replication system based on phage Phi29.
Proc Natl Acad Sci U S A
; 108(46): 18655-60, 2011 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22065756
16.
Stereospecific gating of functional motions in Pin1.
Proc Natl Acad Sci U S A
; 108(30): 12289-94, 2011 Jul 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-21746900
17.
Application of an instrumental and computational approach for improving the vibration behavior of structural panels using a lightweight multilayer composite.
Sensors (Basel)
; 14(3): 4960-80, 2014 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-24618779
18.
Presentation and Management of Uterine Didelphys with Unilateral Cervicovaginal Agenesis/Dysgenesis (CVAD): A Multicenter Case Series.
J Pediatr Adolesc Gynecol
; 37(1): 72-77, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558159
19.
Distribution ofListeria spp., andListeria monocytogenesin micro- and small-scale meat product processing plants.
Heliyon
; 10(7): e28662, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38596116
20.
Epilepsy in Duchenne and Becker muscular dystrophies.
Ann Clin Transl Neurol
; 2024 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38693632