Results 21 to 30 of about 569 (255)

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao, Andrew P. Fennell, Tanavi Sharma, Katrina M. Bell, Monique Dunstan, Sebastian Lunke, Meagan J. McGrath, Catriona McLean, Undiagnosed Diseases Network (UDN‐Aus), Alison Yeung, Anna Hackett, Anne Baxter, Ansley Morrish, Ashil Davawala, Azure Hermes, Ben Kamien, Ben Lundie, Carolyn Ellaway, Carolyn Shalhoub, Cas Simons, Cassandra Gray, Cathryn Poulton, Chloe Cunningham, Chris Barnett, Chris Richmond, Christopher Richards, Daniel MacArthur, Daniel Pavlic, Daniella Hock, Daniz Kooshavar, David Amor, David Mowat, Edward Formaini, Elaine Zhang, Ella Wilkins, Ella Zurita, Ellenore Martin, Elly Lynch, Emma Krzesinski, Emma Palmer, Esther Pierini, Evanthia O. Madelli, Francisco Santos Gonzalez, Gareth Baynam, Gunjan Garg, Hamish Scott, Hannah Thomson, Himanshu Goel, Ilias Goranitis, Ira Deveson, Isabella Pfundt, Jacqui Russell, Janine Smith, Jason Pinner, Julia Broadbent, Julie McGaughran, Karin Kassahn, Katherine Lewis, Kaustuv Bhattacharya, Kirsten Boggs, Kirsty West, Kristi Jones, Laura Wedd, Lauren Dreyer, Leah Frajman, Leanne Baxter, Lilian Downie, Lily Loughman, Lisa Bristowe, Lisa Ewans, Louise Cilento, Lucy Kevin, Lyndal Douglas, Madeleine Harris, Maie Walsh, Manisha Chauhan, Margit Shah, Martin Delatycki, Mathew Wallis, Matthew Hunter, Megan Ball, Megan Higgins, Meutia Kumaheri, Michael Fahey, Mike Field, Mohammadreza Hajjari, Natalie Stewart, Natalie Tan, Natasha Brown, Nicole Van Bergen, Noelia Nunez‐Martinez, Oliver Heath, Rachel Austin, Rani Sachdev, Rebecca Macintosh, Rebecca Vink, Rocio Rius, Ruvi Samarasekera, Ryan Pysar, Sandra Cooper, Sarah Casauria, Sarah Collinson, Sarah Jelenich, Sarah Josephi‐Taylor, Sarah Sandaradura, Sean Massey, Shannon Leblanc, Shuxiang Goh, Simon Bodek, Simon Sadedin, Simran Kaur, Smitha Kumble, Sue White, Suzanne Sallevelt, Tegan Stait, Tiffany Boughtwood, Tim Sikora, Timo Lassmann, Tiong Tan, Tracy Dudding, David R. Thorburn, David A. Stroud, John Christodoulou   +122 more
wiley   +1 more source

Supporting Aged Care Worker Wellbeing: A Qualitative Document Analysis of the Strengthened Aged Care Quality Standards

Australian Journal of Social Issues, EarlyView.
ABSTRACT Aged care work is physically and emotionally demanding. Workers can feel disempowered, vulnerable and at increased risk of experiencing work‐related stress. This in turn can result in sub‐optimal care and staff shortages. This study aimed to investigate what provisions exist within Australia's strengthened Aged Care Quality Standards to ...
Sharon Stoddart, Kate Churruca, Maree Saba, Janet C Long, Peter D. Hibbert, Amy Nguyen, Viviana Wuthrich, Bronwyn Newman, Leonard C. Gray, Hilda Bø Lyng, Jeffrey Braithwaite, Louise A Ellis   +11 more
wiley   +1 more source

Through the lens of marketing authorization holders: experience in use of real‐world data and real‐world evidence in drug development and regulatory submissions in EU

British Journal of Clinical Pharmacology, EarlyView.
Abstract Aim The aim of this study was to assess the general and product‐specific experiences of MAHs use of RWD/RWE in medicines development and in their regulatory submissions, and to explore organizational aspects of MAHs related to RWD/RWE. Methods An electronic survey was conducted, and information collected directly from MAHs.
Sini M. Eskola, Aleksandar Gigov, Hubertus G. M. Leufkens, Andrew Bate, Marie Louise De Bruin, Helga Gardarsdottir   +5 more
wiley   +1 more source

Lula government and social protection in Brazil: challenges and opportunities

Revista Katálysis, 2007
This text identifies continuities and changes in the Brazilian social protection system during the Lula Government (2003-2006). It analyzes the expectations following the re-election of the president, the criticisms made of his government and then ...
Rosana de C. Martinelli Freitas
doaj   +1 more source

Impact of parameter settings on the estimation of drug exposure with the individualized dispensing patterns method

British Journal of Clinical Pharmacology, EarlyView.
Aim To assess the impact of parameter settings when using the individualized dispensing patterns (IDP) method to estimate exposure duration from dispensing data. Methods We conducted a cohort study using a 2% representative sample of the French healthcare insurance database from 2013 to 2022.
Laëtitia Gosselin, Clara Lévy, Noémie Sève, Thierry Blanchon, Marianne Sarazin, Louise Rossignol, Maryse Lapeyre‐Mestre, Nathanaël Lapidus, Olivier Steichen   +8 more
wiley   +1 more source

Conceptualizing Corporate Political Activity for Sustainability Governance—The CPA Cube

Business Strategy and the Environment, EarlyView.
ABSTRACT Sustainability transformations in the economy, and related public policy decisions, are highly contested, attracting business involvement. To better understand how business influence on government impacts the success or failure of sustainability governance efforts, this paper extends the literature on corporate political activity (CPA) by ...
Burkard Eberlein, Janina Grabs
wiley   +1 more source

Um exercício comparativo de política externa

Meridiano 47, 2017
O presente artigo busca realizar uma breve comparação entre a política externa desenvolvida pelo governo FHC e a os rumos delineados pelo governo Lula.
Paulo Roberto Almeida
doaj  

A fome como questão política

Estudos Avançados, 2003
A segurança alimentar é um conceito relacionado com a segurança nacional, uma vez que a soberania de uma nação corre o risco de fragilizar-se ao não garantir alimento em quantidade e qualidade suficientes à sua população.
Frei Betto
doaj   +1 more source

Solvent Effects on the Conformational Preferences of 2,6‐Pyridylcarboxamide Foldamers

Chemistry – A European Journal, EarlyView.
The marked effect of organic solvents and water/methanol mixtures on the conformational preferences of a soluble chiral foldamer has been established in a diverse array of seventeen distinct environments. ABSTRACT The marked influence of organic solvents and water on the conformational preferences of a chiral, soluble 2,6‐pyridylcarboxamide foldamer ...
Alexander R. Davis, Sena Öztürk, Kushal Samanta, Louise Male, Adam A. L. Michalchuk, Sarah J. Pike   +5 more
wiley   +1 more source

Lula na África II

Meridiano 47, 2017
O presente artigo busca analisar a cobertura da mídia dada à recente viagem do presidente Lula à África e seus impactos para a política externa brasileira.
Wolfgang Döpcke
doaj