Results 121 to 130 of about 3,777,538 (289)

Severe Headbanging Responsive to Levodopa in a Child With FOXP1 Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We report a 9‐year‐old female with FOXP1 syndrome due to a de novo in‐frame deletion in the FOXP1 gene. The child has a severe neurodevelopmental disorder including global developmental delay and autism spectrum disorder. At age 2, she developed severe headbanging, which was progressive and did not respond to multidisciplinary, behavioral ...
Pamela Veale, Christopher Tiessen, Vithya Gnanakumar   +2 more
wiley   +1 more source

Suggestions for Exercise Science's Promotion to a Top-Tier Journal in the Category of Sports Science [PDF]

운동과학, 2022
Sun Huh
doaj   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Editorial Advisory Board Member of Engineering Failure Analysis

Miembro del Editorial Advisory Board de la revista Engineering Failure Analysis (Elsevier, I.F.= 3.634).
Morales-Rivas, Lucía
core  

Alcohol and Other Drug Vocational Education and Training in Australia: Changes in the Landscape From 2011 to 2024

Australian Journal of Social Issues, EarlyView.
ABSTRACT People impacted by alcohol and other drugs (AOD) are supported across a range of health and social service settings, often by workers in generalist roles who may not have specialist training. Vocational education and training (VET) plays a key role in equipping AOD workers with the knowledge and skills required for practice, yet there is no ...
Kirrilly Thompson, Jane Anne Fischer, Armin Muminovic, Gianluca Di Censo, Olivia Gray, Ashlea Bartram, Jacqueline A. Bowden   +6 more
wiley   +1 more source

How Media Represent Australian Indigenous Business: Comparing Australian and International Coverage

Australian Journal of Social Issues, EarlyView.
ABSTRACT Media representations of Indigenous business shape public perceptions, investor confidence and consumer demand, influencing how Indigenous enterprises are valued and understood. This Indigenous‐led study systematically reviews grey literature on Australian Aboriginal and Torres Strait Islander businesses published between 2006 and 2024 ...
Maria Raciti, Marnee Shay, Bronwyn Fredericks, Daeul Jeong   +3 more
wiley   +1 more source

Publicações científicas e as relações Norte-Sul: racismo editorial?

Revista de Saúde Pública
O objetivo do estudo foi comentar a possível existência de preconceito editorial entre editores de revistas científicas de países do Norte contra autores do Sul.
Cesar G Victora, Carmen B Moreira
doaj  

Advancing Environmental Sustainability: The Role of Artificial Intelligence in Monitoring, Predicting, and Controlling Sulfur Dioxide Emissions

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Air pollution from sulfur dioxide (SO2) emissions poses significant threats to environmental sustainability, public health, and climate change efforts. Despite advances in monitoring and regulatory frameworks, traditional methods often fall short in accuracy, scalability, and efficiency.
Turkan Kopac
wiley   +1 more source

Nothing about Us without Us: the Roles of Diverse Stakeholders in Scientific Publishing

mBio, 2023
Diana M. Proctor
doaj   +1 more source