Results 151 to 160 of about 47,766 (237)

Exome Sequencing Identifies a Novel Splicing Variant in COL9A3 Resulting in Multiple Epiphyseal Dysplasia: A Case Report

open access: yesMolecular Genetics &Genomic Medicine, Volume 13, Issue 11, November 2025.
A novel COL9A3 splice‐site variant was identified in a 14‐year‐old male misdiagnosed with juvenile idiopathic arthritis, confirming multiple epiphyseal dysplasia and emphasizing molecular testing as the key to unlocking accurate diagnosis in genetically heterogeneous skeletal disorders.
Bashayer Alnuaimi   +5 more
wiley   +1 more source

European Consensus on Functional Bloating and Abdominal Distension—An ESNM/UEG Recommendations for Clinical Management

open access: yesUnited European Gastroenterology Journal, Volume 13, Issue 9, Page 1613-1651, November 2025.
ABSTRACT Introduction Abdominal distension is an objective visible sign of increased abdominal girth. Bloating is a feeling of abdominal fullness and discomfort. Bloating may be associated or not with abdominal distension. Bloating and abdominal distension are among the most commonly reported gastrointestinal symptoms and may be associated with both ...
Chloé Melchior   +20 more
wiley   +1 more source

Keeping Up With School During Hospitalization for Children With Chronic Illnesses, Siblings and Parents

open access: yesChild: Care, Health and Development, Volume 51, Issue 6, November 2025.
ABSTRACT Background Children who have chronic illnesses (CIs) and their siblings often miss school when the child with a CI is hospitalized. Understanding the perspectives of the child with an illness, siblings and parents will provide information about how they keep up with schoolwork, their perceptions of not being in school, or of homeschooling that
Margaret Wazevich   +4 more
wiley   +1 more source

Myositis ossificans mimicking inflammatory myopathy: a case report [PDF]

open access: bronze, 2015
A. Çetiz   +6 more
openalex   +1 more source

Diagnosis and treatment of occipital brain lesions in children

open access: yesDevelopmental Medicine &Child Neurology, Volume 67, Issue 11, Page 1409-1420, November 2025.
Occipital brain lesions in children represent a diagnostic challenge due to the large spectrum of etiologies and overlapping clinical features. This review analyses common and less common causes of occipital brain lesions in children, including malformative, vascular, genetic/metabolic, infectious, inflammatory, and neoplastic conditions.
Luca Bartolini   +4 more
wiley   +1 more source

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