Results 221 to 230 of about 148,938 (327)
Congenital neurodevelopmental anomalies in pediatric and young adult cancer [PDF]
Agha +59 more
core +2 more sources
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus +5 more
wiley +1 more source
Early genetic screening for Fanconi anemia in high‐risk pediatric populations enables timely diagnosis and intervention, significantly improving patient outcomes. Our study highlights the prevalence of undiagnosed cases and the critical role of FANCA gene mutations in effective screening strategies. ABSTRACT Introduction Fanconi anemia (FA) is the most
Adnan A. Sedeeq Al‐Doski
wiley +1 more source
Burr hole monoportal endoscopic resection of a large choroid plexus cyst causing obstructive hydrocephalus: diagnosis, management and literature review. [PDF]
Kalyal N +5 more
europepmc +1 more source
Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients
In this article, we investigate the pathogenesis of three unrelated Chinese children who exhibited mild to moderate developmental delay, mild intellectual disability, facial dysmorphism, mild speech delay, hypotonia, feeding difficulties, brain abnormalities, attention deficit hyperactivity disorder (ADHD), and autistic behaviors. Furthermore, both the
Shan Ou +14 more
wiley +1 more source
Correction to: Brain linear measurement index in the differential diagnosis between idiopathic normal pressure hydrocephalus and progressive supranuclear palsy. [PDF]
Luca A +6 more
europepmc +1 more source
ABSTRACT Background Idiopathic intracranial hypertension is a syndrome characterized by symptoms and signs of raised intracranial pressure without a secondary cause. It primarily affects young obese women who present with headache and papilledema. We report the clinical presentation, brain imaging findings and outcomes of patients with IIH from two ...
Bandlakazi Sukwana‐Ncemane +2 more
wiley +1 more source
CSF concentration gradients of monoamine metabolites in patients with hydrocephalus. [PDF]
Jan Malm +3 more
openalex +1 more source

