Results 201 to 210 of about 32,246 (328)
Unraveling the Role of WDR91: Case Report of a Previously Unrecognized Clinical Entity
Clinical Genetics, EarlyView.A novel case is herein described to expand the genetic and clinical spectrum of WDR91 and characterize a previously unrecognized autosomal recessive neurodevelopmental disorder. WDR91 deficiency results in neuronal loss, cortical thinning, and impaired brain development.
Nikolaos M. Marinakis +14 more
wiley +1 more source
MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families
Clinical Genetics, EarlyView.Pathogenic variants in MAP1B have recently emerged as a cause of neurodevelopmental disorders characterized by intellectual disability, epilepsy, and cortical malformations, including periventricular nodular heterotopia (PVNH) and polymicrogyria (PMG).
Jessica Archer +4 more
wiley +1 more source
A Case Report of Renal Sympathetic Denervation for the Treatment of Polymorphic Ventricular Premature Complexes: Expanding Horizons. [PDF]
Medicine (Baltimore), 2015 Kiuchi MG +4 more
europepmc +1 more source
Clinical Genetics, EarlyView.We hereby report the first prenatal diagnosis of MSL2‐related pathology, namely ventriculomegaly. Favorable 11‐month follow‐up illustrates the challenges in predicting postnatal outcomes for genetic anomalies linked to recently characterized phenotypes with limited documented cases.
Omar Zgheib +12 more
wiley +1 more source
Clinical Obesity, EarlyView.ABSTRACT Bariatric surgery is the most clinically‐ and cost‐effective intervention for severe obesity. However, without adequate follow‐up, it can lead to nutritional deficiencies. Patients require life‐long nutritional supplements and follow‐up to prevent nutritional deficiencies from developing.
Sophie Haughton +2 more
wiley +1 more source