Detalhe da pesquisa
1.
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype.
Am J Hum Genet
; 108(11): 2112-2129, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34626534
2.
New Trends in Biosurfactants: From Renewable Origin to Green Enhanced Oil Recovery Applications.
Molecules
; 29(2)2024 Jan 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38257213
3.
Enhanced MAPK1 Function Causes a Neurodevelopmental Disorder within the RASopathy Clinical Spectrum.
Am J Hum Genet
; 107(3): 499-513, 2020 09 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32721402
4.
NMR Self-Diffusion and Transverse Relaxation Time in Bitumen: The Effect of Aging.
Chemphyschem
; 24(24): e202300217, 2023 Dec 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-37691003
5.
Starch/PVOH aqueous solutions: a chemical-physical characterization.
Phys Chem Chem Phys
; 25(38): 26014-26022, 2023 Oct 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37740358
6.
Triacylglycerol Composition and Chemical-Physical Properties of Cocoa Butter and Its Derivatives: NMR, DSC, X-ray, Rheological Investigation.
Int J Mol Sci
; 24(3)2023 Jan 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768417
7.
Curcumin-Sodium Alginate and Curcumin-Chitosan Conjugates as Drug Delivery Systems: An Interesting Rheological Behaviour.
Molecules
; 28(15)2023 Aug 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37570862
8.
Biomaterials and Their Potentialities as Additives in Bitumen Technology: A Review.
Molecules
; 27(24)2022 Dec 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36557958
9.
Aging Process Effects on the Characteristics of Vacuum Residue Oxidation Products with the Addition of Crumb Rubber.
Molecules
; 27(10)2022 May 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-35630760
10.
NMR Spectroscopy Applied to the Metabolic Analysis of Natural Extracts of Cannabis sativa.
Molecules
; 27(11)2022 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35684451
11.
Pyrolysis and Gasification of a Real Refuse-Derived Fuel (RDF): The Potential Use of the Products under a Circular Economy Vision.
Molecules
; 27(23)2022 Nov 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-36500207
12.
Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes.
Am J Hum Genet
; 102(2): 309-320, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29394990
13.
Preliminary Study on New Alternative Binders through Re-Refined Engine Oil Bottoms (REOBs) and Industrial By-Product Additives.
Molecules
; 26(23)2021 Nov 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-34885856
14.
Water-Based Aerosol for Book Deacidification: Experimental Apparatus and Theoretical Interpretation of Results.
Molecules
; 26(14)2021 Jul 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-34299523
15.
The Relevance of Family History Taking in the Detection and Management of Birt-Hogg-Dubé Syndrome.
Respiration
; 98(2): 125-132, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-31266032
16.
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome.
Hum Mutat
; 38(4): 451-459, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28074573
17.
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Hum Mol Genet
; 23(16): 4315-27, 2014 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-24705357
18.
Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.
Nat Genet
; 39(8): 1007-12, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17603483
19.
Activating Mutations Affecting the Dbl Homology Domain of SOS2 Cause Noonan Syndrome.
Hum Mutat
; 36(11): 1080-7, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26173643
20.
Response to long-term growth hormone therapy in patients affected by RASopathies and growth hormone deficiency: Patterns of growth, puberty and final height data.
Am J Med Genet A
; 167A(11): 2786-94, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26227443