Results 191 to 200 of about 229,492 (300)

Complex Genetic Architecture in RASopathies: Constitutional PTPN11 and Mosaic RIT1 Pathogenic Variants Underlying Severe Noonan Syndrome With Adult‐Onset Acute Myeloid Leukemia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello, Dario Seif Ali, Chiara Piccolo, Chiara Rigon, Monica Forzan, Elena Tacchetto, Roberta Palmitessa, Davide Calosci, Leonardo Salviati, Carmela Gurrieri, Eva Trevisson   +10 more
wiley   +1 more source

Long-term remote sensing assessment of Natura 2000 protected areas in Poland (2004-2023). [PDF]

Sci Rep
Mateusz P, Sender J.
europepmc   +1 more source

Unravelling the Referendum: An Analysis of the 2023 Australian Voice to Parliament Referendum Outcomes Across Capital Cities

Australian Journal of Social Issues, EarlyView.
ABSTRACT The 2023 Australian Voice to Parliament Referendum presented a pivotal moment in the nation's democratic landscape. Despite support for Indigenous well‐being, the referendum did not secure the necessary approval, prompting extensive analysis of its outcome.
Scott Baum, William Mitchell
wiley   +1 more source

Lighting the Path: Advancing Research in Electrical Storm. [PDF]

JACC Adv
Motazedian P, Ramirez FD, Di Santo P, Prosperi-Porta G, Nelson D, Lee JK, Jung R, Mathew R, Wells GA, Hibbert B.   +9 more
europepmc   +1 more source

Landscape education and research in Piedmont for the implementation of the European Landscape Convention [PDF]

, 2010
AAVV, Cassatella, Claudia, Devecchi, M., Gambino, Roberto, Larcher, F.   +4 more
core  

Implementing Indigenous Data Sovereignty in Australia: A Five‐Phase Framework for Indigenous Data Governance

Australian Journal of Social Issues, EarlyView.
ABSTRACT This article presents the development of a five‐phase Indigenous Data Governance (IDGov) Framework in Australia, focusing on partnerships between the Aboriginal Community Controlled Health Organisation (ACCHO) sector and non‐Indigenous health entities.
Jacob Prehn, Michael A. Guerzoni, Maggie Walter, Gawaian Bodkin‐Andrews, Bobby Maher   +4 more
wiley   +1 more source

Multiplexed Tandem Mass Spectrometry Imaging Enables Large‐Scale Isomer Mapping and Annotation in Tissues

Angewandte Chemie, EarlyView.
Parallel mass spectrometry imaging acquires high mass resolution and tandem mass spectrometry images from 108 isolation windows in a single run. Spatial similarity networking clusters product ions by spatial distribution, enabling annotation of isomers and isobars as demonstrated for phospholipids and oxidized cholesterol in mouse and human brain ...
Varun V. Sharma, Gabor Toth, Robert Martinis, Cathrin E. Hansen, Gijs Kooij, Ingela Lanekoff   +5 more
wiley   +2 more sources

A manifesto for coastal landscape governance: Reframing the relationship between coastal and landscape governance. [PDF]

Ambio
Gonçalves C, Pinho P.
europepmc   +1 more source

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

Animal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang, Baoying Xu, Xinru Chen, Yu Chen, Dehong Yu   +4 more
wiley   +1 more source

Predicting and Rationalizing Piezoelectricity in Racemic Bioorganic Molecular Crystals

Angewandte Chemie, EarlyView.
Racemic molecular crystals, composed of equal mixtures of chiral enantiomeric components, are predicted to exhibit significant piezoelectric responses and favourable mechanical flexibility. This study identifies organic and bioorganic racemates as promising candidates for sustainable, lead‐free materials, enabling next‐generation applications in energy
Shubham Vishnoi, Sarah Guerin
wiley   +2 more sources