Detalhe da pesquisa
1.
A new case of platelet-type von Willebrand disease supports the recent findings of gain-of-function GP1BA variants outside the C-terminal disulphide loop enhances affinity for von Willebrand factor.
Br J Haematol
; 203(4): 673-677, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37592722
2.
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Blood
; 136(17): 1956-1967, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32693407
3.
Thrombocytopenia-Absent Radius Syndrome: Descriptions of Three New Cases and a Novel Splicing Variant in RBM8A That Expands the Spectrum of Null Alleles.
Int J Mol Sci
; 23(17)2022 Aug 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-36077017
4.
Can increased load carriage affect lower limbs kinematics during military gait?
Ergonomics
; 65(9): 1194-1201, 2022 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34930095
5.
Increasing involvement of CAPN1 variants in spastic ataxias and phenotype-genotype correlations.
Neurogenetics
; 22(1): 71-79, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33486633
6.
Congenital ataxia due to novel variant in ATP8A2.
Clin Genet
; 100(1): 79-83, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33682124
7.
DFT study of H2 adsorption at a Cu-SSZ-13 zeolite: a cluster approach.
Phys Chem Chem Phys
; 23(16): 9980-9990, 2021 Apr 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-33870397
8.
CalDAG-GEFI Deficiency in a Family with Symptomatic Heterozygous and Homozygous Carriers of a Likely Pathogenic Variant in RASGRP2.
Int J Mol Sci
; 22(22)2021 Nov 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34830306
9.
Bulk pH and Carbon Source Are Key Factors for Calcium Phosphate Granulation.
Environ Sci Technol
; 53(3): 1334-1343, 2019 02 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30620555
10.
Update on the Genetics of Spastic Paraplegias.
Curr Neurol Neurosci Rep
; 19(4): 18, 2019 02 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30820684
11.
Rare Neurodegenerative Diseases: Clinical and Genetic Update.
Adv Exp Med Biol
; 1031: 443-496, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214587
12.
Biomechanics, energetics and coordination during extreme swimming intensity: effect of performance level.
J Sports Sci
; 35(16): 1614-1621, 2017 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-27602781
13.
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Brain
; 138(Pt 8): 2191-205, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026163
14.
High rate of SVR with DAA in haemophiliacs with HCV infection: Three decades of follow-up of a Portuguese single-centre cohort.
Liver Int
; 40(7): 1783-1784, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32133739
15.
An alternative interpretation of the ultracold methylhydroxycarbene rearrangement mechanism: cooperative effects.
Phys Chem Chem Phys
; 17(11): 7443-8, 2015 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25704594
16.
Blood transfusion after primary total knee arthroplasty can be significantly minimised through a multimodal blood-loss prevention approach.
Int Orthop
; 38(2): 347-54, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24318318
17.
Drain use can be avoided in reverse shoulder arthroplasty.
Injury
; 54 Suppl 7: 111041, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38225162
18.
A coumarin based Schiff Base: An effective colorimetric sensor for selective detection of F- ion in real samples and DFT studies.
Spectrochim Acta A Mol Biomol Spectrosc
; 286: 121964, 2023 Feb 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36274537
19.
Therapeutic Ultrasound Alone and Associated with Lymphatic Drainage in Women with Breast Engorgement: A Clinical Trial.
Breastfeed Med
; 18(11): 881-887, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37971376
20.
Understanding the reaction mechanism of the CO2 and cyclohexene oxide copolymerization catalyzed by zinc(II) and magnesium(II) catalysts: a DFT approach.
J Mol Model
; 28(10): 314, 2022 Sep 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36104579