Results 81 to 90 of about 7,197 (279)

Variant Update on ASCC1: Characterization of the First Homozygous Missense Variant Involved in Prenatal‐Onset Spinal Muscular Atrophy With Congenital Bone Fractures 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Spinal muscular atrophy with congenital bone fractures 2 is a rare and severe autosomal recessive neuromuscular disorder caused by pathogenic variants in ASCC1. This condition characterized by prenatal onset of severe hypotonia with fetal hypokinesia and congenital contractures results in arthrogryposis multiplex congenita, and increased ...
A. Civit, L. Kerbellec, D. Laurenceau, D. C. Ung, M. P. Moizard, N. Ronce, P. Gueguen, F. Laumonnier, A. C. Bréhin, F. Marguet, A. Laquerrière, A. M. Bergemer Fouquet, J. Cirier, S. Blesson, S. Arpin, M. Jeanne, M. L. Vuillaume   +16 more
wiley   +1 more source

‘The Other Parent’: A Critical Policy Analysis of Fatherhood Discourses in the Australian Government's Paid Parental Leave Scheme

Australian Journal of Social Issues, EarlyView.
ABSTRACT The Australian paid parental leave (PPL) government scheme aims to support working parents through financial assistance and the promotion of gender equality in caregiving responsibilities. However, the scheme's implementation has been critiqued for its gendered design, which marginalises fathers and reinforces traditional gender roles.
Lily Lewington, Bernadette Sebar, Jessica Lee   +2 more
wiley   +1 more source

Normal Central Retinal Function and Structure Preserved in Retinitis Pigmentosa

Investigative Opthalmology & Visual Science, 2010
To determine whether normal function and structure, as recently found in forms of Usher syndrome, also occur in a population of patients with nonsyndromic retinitis pigmentosa (RP).Patients with simplex, multiplex, or autosomal recessive RP (n = 238; ages 9-82 years) were studied with static chromatic perimetry.
Samuel G, Jacobson, Alejandro J, Roman, Tomas S, Aleman, Alexander, Sumaroka, Waldo, Herrera, Elizabeth A M, Windsor, Lori A, Atkinson, Sharon B, Schwartz, Janet D, Steinberg, Artur V, Cideciyan   +9 more
openaire   +2 more sources

Innovative Approach to Hydrogen Purification: A Review on the Role of Metal Hydrides

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT Metal hydrides, renowned for their unique hydrogen bonding capabilities, have emerged as pivotal materials in the energy sector, particularly for hydrogen storage and purification applications. Their ability to store hydrogen reversibly under moderate conditions has positioned them at the forefront in hydrogen‐based energy systems. This review
T. Mohammed Faheem, Vinod Kumar Sharma, A. Shaija, Bhaskar Das, Ranjith Krishna Pai   +4 more
wiley   +1 more source

A Randomized, Placebo‐Controlled Trial of Hydroxychloroquine in Incomplete Lupus

Arthritis &Rheumatology, EarlyView.
Objective Patients with features of systemic lupus erythematosus (SLE) who do not fulfill classification criteria can be designated as incomplete lupus erythematosus (ILE). This condition includes individuals with a high risk of progression to SLE. Treatment of ILE may reduce symptoms, severity, and incidence of SLE.
Nancy J. Olsen, Duanping Liao, Judith A. James, Joel M. Guthridge, Cristina Arriens, Diane Kamen, Mariko Ishimori, Daniel J. Wallace, Christopher Striebich, Sonali Narain, Benjamin F. Chong, Fan He, Eric W. Schaefer, Vernon M. Chinchilli, David R. Karp   +14 more
wiley   +1 more source

“You're this person who's providing light”: Embodied responses to information loss and transition within LGBTQIA+ communities

Journal of the Association for Information Science and Technology, EarlyView.
Abstract This paper reports on findings from 15 semi‐structured interviews with LGBTQIA+ individuals within the United States who have experienced the loss of one or more LGBTQIA+ information spaces. The paper specifically focuses on how such losses occurred and the information transitions experienced by the participants in response to this loss ...
Travis L. Wagner, Vanessa L. Kitzie
wiley   +1 more source

A probe-density-based analysis method for array CGH data: simulation, normalization and centralization [PDF]

, 2008
Hung-I Harry Chen, Fang-Han Hsu, Yuan Jiang, Mong‐Hsun Tsai, Pan‐Chyr Yang, Paul S. Meltzer, Eric Y. Chuang, Yidong Chen   +7 more
openalex   +2 more sources

Some finiteness conditions on normalizers or centralizers in groups [PDF]

, 2017
Gustavo A. Fernández‐Alcober, Leire Legarreta, Antonio Tortora, Maria Tota   +3 more
openalex   +1 more source

To protect and preserve? Explaining the gap between structural and superficial racial equality regimes in North Atlantic Rim universities

British Educational Research Journal, EarlyView.
Abstract This article examines how UK and US universities manage racial equality regimes through governance structures that prioritise institutional reputation over substantive racial justice reform. Drawing on Bourdieu's field, habitus and capital theory, the study demonstrates how universities neutralise racial justice efforts through bureaucratic ...
David Roberts
wiley   +1 more source

‘These reforms have teeth’: The affective dimensions of teacher education policy enactment

British Educational Research Journal, EarlyView.
Abstract The affective dimensions of education policy enactment have often received less attention in the research literature, especially regarding teacher education policy. This article reports on a study of the affective responses of university‐based teacher educators in England to the significant initial teacher education reforms of 2019–2022: the ...
Ian Cushing, Viv Ellis
wiley   +1 more source