Results 181 to 190 of about 86,608 (248)

Clinical and Cytogenomic Characterization of Three Patients With Distal 1q43q44 Deletion: Twin Sisters With a de novo Deletion and a Patient With der(1)t(1;21)(q43;q22.3)mat

open access: yesJournal of Clinical Laboratory Analysis, EarlyView.
Distal 1q43q44 deletions lead to a consistent neurodevelopmental phenotype characterized by microcephaly, corpus callosum abnormalities, and developmental delay. Despite differences in genomic architecture, overlapping deletions affecting dosage‐sensitive genes such as AKT3, HNRNPU, and ZBTB18 define the core phenotype.
Ma. Guadalupe Domínguez‐Quezada   +6 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

open access: yesJournal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi   +13 more
wiley   +1 more source

Preparing for Tomorrow's Teamwork: Insights From eSports on How Human Expertise Shapes Training Needs for AI‐Integrated Work

open access: yesJournal of Organizational Behavior, EarlyView.
ABSTRACT As organizations increasingly adopt human‐AI teams (HATs), understanding how to enhance team performance is paramount. A crucially underexplored area for supporting HATs is training, particularly helping human teammates to work with these inorganic counterparts.
Caitlin M. Lancaster   +5 more
wiley   +1 more source

Congenital short bowel syndrome: Clinical aspects by systematic review

open access: yesJPGN Reports, EarlyView.
Abstract Objectives Congenital short bowel syndrome (CSBS) is a rare intestinal disorder characterized by inborn shortening of the bowel with mainly mutations in Coxsackie and Adenovirus receptor‐like membrane protein (CLMP) and Filamin A (FLNA) genes.
Barblin Remund   +2 more
wiley   +1 more source

A talus rock glacier in Nantlle Valley, North Wales

open access: yesJournal of Quaternary Science, EarlyView.
ABSTRACT Landforms comprising mixtures of fine and coarse sediment and deposited during late glacial times are ubiquitous in the British mountains. In many cases, their interpretation has often proved contentious; as a result, the non‐generic term discrete debris accumulations (DDA) has been used to describe them and, over the last 50 years, some have ...
Stephan Harrison, Ed Anderson
wiley   +1 more source

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