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Author

L. Schimmenti

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2 papers indexed here

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Oct 2026

Rapid Whole-Genome Sequencing in Pediatric Neurology Inpatients.

Importance Rapid whole-genome sequencing (WGS) has advanced inpatient genetic diagnosis, although most evidence comes from neonatal and pediatric intensive care unit (ICU) populations. Its utility for pediatric neurology inpatients across broader acute settings remains insufficiently established. Objective To assess...

Man Amanat, Asma Ali, Q. Tan et al. · 1 citation
Review Aug 2026

Clinical, Genetic, and Endocrine Features of Bardet-Biedl Syndrome in a Pediatric and Adult Cohort.

Bardet-Biedl syndrome (BBS) is a rare autosomal recessive disorder characterized by clinical and genetic heterogeneity. Data on the prevalence of clinical manifestations and comorbidities in BBS, particularly in pediatric patients, are limited. This study aimed to assess the prevalence and various manifestations of end...

Doha Hassan, Mostafa Salama, Kalpana Muthusamy et al. · 0 citations

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