Results 51 to 60 of about 1,150,706 (248)

The Homozygous p.(Arg215Ter) Variant in XRCC2 Is Associated With Atypical Fanconi Anemia Without Major Hematological Abnormalities in Childhood

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Fanconi Anemia (FA) is the most frequent inherited bone marrow failure syndrome. A role for the XRCC2 gene in FA was suspected in 2012 and confirmed in 2016, but only two affected individuals have been described thus far, and no long‐term follow‐up is available.
Sabina Cenciarelli, Giulia Bruna Marchetti, Maria Iascone, Maria Grazia Patricelli, Sara Giangiobbe, Gabriella Cinzia Pozzobon, Miriam Nella Savini, Fabio Giglio, Alessandro Aiuti, Paola Carrera, Francesca Ferrua, Angela Peron   +11 more
wiley   +1 more source

Patient Perspectives on Psychiatric Polygenic Risk Scores in Reproductive Decision‐Making and Polygenic Embryo Screening

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Polygenic risk scores (PRS) estimate individuals' genetic risk for developing multifactorial conditions. Recent genome‐wide association studies have enabled development of psychiatric PRS, which hold potential to streamline diagnosis and treatment of psychiatric conditions.
Lauren A. Ginn, Amanda R. Merner, Page M. Trotter, Kaitlynn P. Craig, Abigail C. Martinez, Ana Lucía Battaglino, Dorit Barlevy, Daphne M. Ayton, Takahiro Soda, Eric A. Storch, Gabriel Lázaro‐Muñoz, Stacey Pereira   +11 more
wiley   +1 more source

ACM sets of points in multiprojective space

, 2007
If X is a finite set of points in a multiprojective space P^n1 x ... x P^nr with r >= 2, then X may or may not be arithmetically Cohen-Macaulay (ACM). For sets of points in P^1 x P^1 there are several classifications of the ACM sets of points.
Guardo, Elena, Van Tuyl, Adam
core   +2 more sources

Improved Dry‐Pressing Strategy for Fabricating Double‐Sided Rough YSZ Electrolyte Thin Films and Their Performance in Solid Oxide Cells

Asia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT This study addresses limitations of the conventional dry‐pressing method for electrolyte‐supported films—smooth surfaces, excessive thickness, and fragile supports inducing damage. We propose an innovative camphor–quartz sand composite architecture to construct a five‐layer (camphor/quartz sand/YSZ/quartz sand/camphor) system, enabling thin ...
Hong Chang, Hewei Xu, Haoyu Li, Jiachun Niu, Lina Zhang, Chenying Yao, Yiyi Zhang, Huili Chen, Chuan Dong   +8 more
wiley   +1 more source

Role of soft tissue and bone interactions in the developmental integration and modularity of the skull in neural crest‐specific gap junction alpha‐1 knockout mice

The Anatomical Record, EarlyView.
Abstract The vertebrate skull is composed of bones derived from neural crest cells and mesoderm. The evolutionary capacity of the skull has been linked, in part, to the emergence of neural crest cells; however, this increased capacity for evolutionary change requires that variation within neural crest‐ and mesoderm‐derived bones remains partly ...
Alyssa C. Moore, Madeline Tourigny, Diana Quinonez, Kevin Barr, Matthew W. Grol, Katherine E. Willmore   +5 more
wiley   +1 more source

Morpho‐functional analyses of the jaw apparatus in the Blue‐and‐yellow Macaw (Ara ararauna, Psittaciformes, Aves): Adaptations to feeding behavior

The Anatomical Record, EarlyView.
Abstract Macaws are renowned for processing dry, mechanically resistant fruits, yet the species‐level anatomical and functional correlates of this performance remain incompletely resolved. We examined the feeding apparatus of the Blue‐and‐yellow Macaw (Ara ararauna) using an integrated approach that combines osteology, myology, and bite‐force estimates
Sérgio R. Posso, Ana Caroline M. Barbosa, Victor R. Caciatori   +2 more
wiley   +1 more source

Linearized Treatment of Scalar perturbations in the Asymptotic Cosmological Model

, 2009
In this paper the implications of a recently proposed phenomenological model of cosmology, the Asymptotic Cosmological Model (ACM), on the behavior of scalar perturbations are studied.
Armendariz-Picon, Bassett, Bekenstein, Bekenstein, Capozziello, Carloni, Carroll, Challinor, Chiba, Cognola, Cortes, Damour, Deffayet, Dunkley, Dvali, Eisenstein, Faulkner, Freedman, Gordon, Hu, J. Induráin, J.L. Cortés, Jaffe, Kolb, Komatsu, Kowalski, Nojiri, Nojiri, Peacock, Perlmutter, Riess, Riess, Sachs, Spergel, Tomita, Turner, Turner, Wang, Weinberg, Wetterich, Zlatev   +40 more
core   +1 more source

Significant Deficits Are Seen in Extensor Muscle Performance but Not Flexor Muscle Performance 6 Months After Anterior Cruciate Ligament Reconstruction Using a Rectus Femoris Tendon Autograft

Arthroscopy, Sports Medicine, and Rehabilitation, EarlyView.
Purpose To evaluate bilateral isokinetic performance symmetry of knee extensors and flexors 6 months after anterior cruciate ligament reconstruction using a rectus femoris tendon autograft. Methods This retrospective case series included patients consecutively recruited at a single tertiary sports medicine center between January 2023 and July 2024 ...
Alef Cavalcanti Matias de Barros, Márcio Cabral Fagundes Rêgo, Karinna Sonálya Aires da Costa Oliveira, Marcelo Cabral Fagundes Rêgo, Carlos Eduardo da Silveira Franciozi, Diego Ariel de Lima, Camilo Partezani Helito, José Leonardo Rocha de Faria, Jamilson Simões Brasileiro   +8 more
wiley   +1 more source

Personal HealthCare of Things: A novel paradigm and futuristic approach

CAAI Transactions on Intelligence Technology, EarlyView., 2023
Abstract This study provides an investigative approach and offers a complete review of research on Internet of Medical Things (IoMT), describing the progress in general and highlighting the research issues, trends, and future aspects of IoMT. Exploring a research strategy for IoMT systems is vital as the need for IoT in healthcare grows. By aggregating
Surbhi Gupta, Mohammad Shabaz, Ankur Gupta, Abdullah Alqahtani, Shtwai Alsubai, Isaac Ofori   +5 more
wiley   +1 more source

Context‐centric proactive information delivery for Knowledge Work support: Opportunities, challenges, and directions. An Annual Review of Information Science and Technology (ARIST)

Journal of the Association for Information Science and Technology, EarlyView.
Abstract Context‐centric proactive information delivery (PID) is a relatively underexplored domain within recommender systems (RS) aimed at enhancing Knowledge Workers' productivity by proactively providing relevant information during digital tasks.
Mahta Bakhshizadeh, Christian Jilek, Markus Schröder, Heiko Maus, Andreas Dengel   +4 more
wiley   +1 more source