Results 121 to 130 of about 952 (166)

NKX2‐1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea

Movement Disorders, EarlyView.
Abstract Background NKX2‐1–related disorders (NKX2‐1‐RDs) classically present with a triad of neurological, endocrine, and pulmonary manifestations, including benign hereditary chorea. However, in a fraction of patients, NKX2‐1 coding variants are not detected, and variants outside the NKX2‐1 locus have been reported.
Robin Wijngaard, Lucy Dougherty‐de Miguel, German Demidov, Galuh Astuti, Amaia Lasa‐Aranzasti, Ana Cueto‐González, Marta Correa‐Vela, Carlos Lázaro‐Hernández, Charlotte A. Haaxma, Clara D.M. van Karnebeek, David Gómez‐Andrés, Ignacio Iglesias‐Serrano, Jiddeke M. van de Kamp, Jolanda Schieving, Laura Trujillano, Marc Engelen, Beatriz Muñoz‐Cabello, Roderick P.P.W.M. Maas, Thatjana Gardeitchik, Victoria Gonzalez, Annemarie de Vreugd, Cristina Pérez‐Sanchez, Elisabet Lloveras, Erik‐Jan Kamsteeg, Maartje Pennings, Natalia Rey‐Viñets, Javier Sánchez, Ronald van Beek, Antonio Moreno‐Galdó, Lisenka E.L.M. Vissers, Kornelia Neveling, Anna Marcé‐Grau, Machteld M. Oud, Belén Pérez‐Dueñas   +33 more
wiley   +1 more source

Simplified Anisotropic IVIM Using Spherical Means and an Application in the Placenta

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose To reduce the complexity associated with anisotropic IVIM modeling, we derived two simplified diffusion MRI models that map the apparent diffusivity, relative proportions, and anisotropy of perfusion‐ and diffusion‐related signal components and demonstrated them in placenta scans.
Paddy J. Slator, Luke Pleva, Alexandra Crawford, Lucy Higgins, Edward Johnstone, Alexander E. P. Heazell, Daniel C. Alexander, Josephine H. Naish, Kate Duhig   +8 more
wiley   +1 more source

Mobilizing Presence across Borders: Devotion to Papua New Guinea's Blessed Peter To Rot in Australia

Oceania, EarlyView.
ABSTRACT This article engages with the conjunctures between migration and religion by focusing on the celebration of Papua New Guinea's ‘National Patron Saint’, the Blessed Peter To Rot, in the Australian diaspora. Both in Sydney and Brisbane, Catholic Papua New Guinea (PNG) migrants have been ‘relocating’ PNG shrines, regalia, relics and ritual ...
Anna‐Karina Hermkens
wiley   +1 more source

Characterizing Music Engagement and Reward in Individuals Across a Spectrum of Hearing Loss and Rehabilitation

Otolaryngology–Head and Neck Surgery, EarlyView.
Abstract Objective Hearing aids (HAs) and cochlear implants (CIs) improve speech perception for individuals with hearing loss (HL), yet their impact on music outcomes remains unclear. We examined music perception, engagement, and reward in a large cohort of individuals across various hearing conditions. Study design Cross‐sectional survey.
Emily Gao, Maria Armache, Joon Soo Kim, Celine Arar, Elaine C. Thompson, Claire Wang, Marshall Chasin, Theodore R. McRackan, Alexander Chern   +8 more
wiley   +1 more source

Do cultural taboos regulate hunting in transitioning Indigenous communities? The case of the Idu Mishmi of Northeast India

People and Nature, EarlyView.
Abstract There is rising recognition of resource‐use rights of Indigenous Peoples and Local Communities (IPLCs) within wildlife conservation. Historically, sociocultural institutions ensured wildlife sustainability in many IPLC areas. However, the future viability of such institutions is uncertain as IPLCs change in response to external pressures and ...
Sahil Nijhawan, Achili Mihu, Iho Tapo, Alinji Rondo, Jibi Pulu, Marcus Rowcliffe   +5 more
wiley   +1 more source

Performing Mrs Dalloway (1925)

Miranda: Revue Pluridisciplinaire du Monde Anglophone, 2018
Jean-Rémi Lapaire
doaj  

A dramaturgy of uncertainty: Transdisciplinary manoeuvres across forestry and theatre

People and Nature, EarlyView.
Abstract The uncertainties of climate change mean that forestry adaptation strategies are often complex and contested. Research has suggested that there is an interest in the forestry sector for facilitated dialogue about uncertainty (de Pellegrin Llorente et al., 2023).
Rachel Clive, Deirdre Heddon, Jordan Rydlewski, David Edwards, Chris Fremantle   +4 more
wiley   +1 more source

Hemophilia A: An Ideal Disease for Prenatal Therapy

Prenatal Diagnosis, EarlyView.
ABSTRACT Hemophilia A (HA) is the most common inherited coagulation defect. Current state‐of‐the‐art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal,
Christopher D. Porada, Anthony Atala, Graça Almeida‐Porada   +2 more
wiley   +1 more source

Clinical Utility of Nuchal Translucency Measurement in First‐Trimester Ultrasound Screening in a Setting With First‐Tier NIPT for Aneuploidy Screening

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To investigate the additional clinical value of nuchal translucency (NT) measurement at the first‐trimester anomaly scan (FTAS) in a setting with first‐tier non‐invasive prenatal testing (NIPT). Method This nationwide prospective cohort study, part of the IMITAS study on FTAS implementation, included all pregnancies with increased NT
Eline E. R. Lust, Kim Bronsgeest, Lidewij Henneman, Neeltje M. T. H. Crombag, Caterina M. Bilardo, Robert‐Jan H. Galjaard, Esther Sikkel, Audrey B. C. Coumans, Ayten Elvan‐Taşpınar, Sander Galjaard, Attie T. J. I. Go, Gwendolyn T. R. Manten, Eva Pajkrt, Elisabeth van Leeuwen, Monique C. Haak, Mireille N. Bekker   +15 more
wiley   +1 more source

Attitudes Toward Prenatal Interventions in the Fanconi Anemia Community

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective In‐utero cell and gene therapies may offer prenatal treatment options for inherited diseases. Preclinical data suggests in‐utero (IU) hematopoietic stem cell transplantation (HSCT) could prevent Fanconi anemia (FA) related bone marrow failure without genotoxic conditioning or immune suppression.
Tony Lum, Catherine Lee, Tippi MacKenzie, Billie Lianoglou, Agnieszka Czechowicz   +4 more
wiley   +1 more source