Results 221 to 230 of about 148,938 (327)

Congenital neurodevelopmental anomalies in pediatric and young adult cancer [PDF]

open access: yes, 2017
Agha   +59 more
core   +2 more sources

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
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

Evaluating the Effectiveness of Early Genetic Screening for Fanconi Anemia in High‐Risk Pediatric Populations

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
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

Clinical and Genetic Analysis of SMARCC2‐Related Diseases in Three Chinese Patients

open access: yesMolecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
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

Idiopathic Intracranial Hypertension—Clinical Characteristics, Neuroimaging and Outcome of Patients from Pretoria, South Africa

open access: yesNeurology and Clinical Neuroscience, Volume 14, Issue 1, Page 46-53, January 2026.
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]

open access: bronze, 1994
Jan Malm   +3 more
openalex   +1 more source

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