Results 201 to 210 of about 32,259 (328)

MAP1B Variants Disrupt Neuronal Migration: Insights From Three Novel Families

open access: yesClinical 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

Catheter ablation of intramural outflow tract premature ventricular complexes: a multicentre study. [PDF]

open access: yesEuropace, 2023
Hanson M   +15 more
europepmc   +1 more source

Prenatal Diagnosis of MSL2‐Related Ventriculomegaly in Association With an Inherited 15q13 Microduplication

open access: yesClinical 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

Nutritional Deficiencies Following Bariatric Surgery: A Rapid Systematic Review of Case Reports of Vitamin and Micronutrient Deficiencies Presenting More Than Two Years Post‐Surgery

open access: yesClinical 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

Catheter Ablation of Premature Ventricular Complexes Exclusively by A 3D Electroanatomic Pace-Mapping Software Technique: Long-Term Follow-Up

open access: bronze, 2020
Fabrício Vassallo   +15 more
openalex   +1 more source

ATAD3 duplications bridge mitochondrial diseases and Aicardi–Goutières syndrome

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
ATAD3 locus duplications cause a severe neonatal mitochondrial disorder with neuroimaging features resembling interferonopathies, and suggest a mitochondrial nucleic acid‐triggered interferon response. Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.16446 Abstract A recurrent 68‐kb heterozygous duplication of the ATAD3 locus ...
Pauline Planté‐Bordeneuve   +26 more
wiley   +1 more source

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