Detalhe da pesquisa
1.
Evaluating the daily modulation of FADD and related molecular markers in different brain regions in male rats.
J Neurosci Res
; 102(2): e25296, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38361411
2.
Inpatient Rehabilitation Falls: Comparing Patients With Traumatic Brain Injury Versus Patients With Stroke.
J Trauma Nurs
; 30(4): 202-212, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37417671
3.
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL.
Hum Mutat
; 43(10): 1361-1367, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35753050
4.
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.
Am J Hum Genet
; 104(4): 721-730, 2019 04 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30929742
5.
MLIP causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase.
Brain
; 144(9): 2722-2731, 2021 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581780
6.
Identification of Clinical Variants beyond the Exome in Inborn Errors of Metabolism.
Int J Mol Sci
; 23(21)2022 Oct 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36361642
7.
Characterization of a complex phenotype (fever-dependent recurrent acute liver failure and osteogenesis imperfecta) due to NBAS and P4HB variants.
Mol Genet Metab
; 133(2): 201-210, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33707149
8.
Blood transfusion activity in a general hospital during the COVID-19 pandemic.
Vox Sang
; 116(5): 574-580, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33135226
9.
Unexpected Cause of Persistent Microcytosis and Neurological Symptoms in a Child: Niemann-Pick Disease Type C.
J Pediatr Hematol Oncol
; 43(8): e1238-e1240, 2021 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33661177
10.
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
Ann Neurol
; 86(2): 293-303, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31125140
11.
MAST1 variant causes mega-corpus-callosum syndrome with cortical malformations but without cerebellar hypoplasia.
Am J Med Genet A
; 182(6): 1483-1490, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32198973
12.
Perioperative management of children with urea cycle disorders.
Paediatr Anaesth
; 30(7): 780-791, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32375202
13.
Orbital emphysema after transcanalicular laser-assisted dacryocystorhinostomy treated with needle decompression.
Orbit
; 39(5): 365-367, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-31701801
14.
Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.
Clin Genet
; 95(5): 615-626, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30653653
15.
Etiology, seizure type, and prognosis of epileptic seizures in the emergency department.
Epilepsy Behav
; 92: 327-331, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30763767
16.
Protein matrices ensure safe and functional delivery of rosmarinic acid from marjoram (Origanum majorana) extracts.
J Sci Food Agric
; 99(5): 2629-2635, 2019 Mar 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-30430572
17.
Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation.
J Hum Genet
; 63(4): 525-528, 2018 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-29410510
18.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
19.
Efficient directly emitting high-power Tb3+:LiLuF4 laser operating at 587.5 nm in the yellow range.
Opt Lett
; 43(19): 4791-4794, 2018 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30272741
20.
Spectroscopic properties and continuous-wave deep-red laser operation of Eu3+-doped LiYF4.
Opt Lett
; 43(10): 2364-2367, 2018 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29762593