Results 161 to 170 of about 479,147 (344)

Pediatric Neurology and Neurosurgery [PDF]

open access: bronze, 1979
Richard A. Thompson, John R. Green
openalex   +1 more source

Survivorship of Individuals With Double Heterozygosity for Achondroplasia and Type 2 Collagenopathy

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Historically, double heterozygosity, or a diagnosis of two separate, dominant genetic conditions, was often thought to be lethal in individuals with autosomal dominant skeletal dysplasias. In previously published studies of individuals with dual dysplasia diagnoses of achondroplasia and type 2 collagenopathy, infants died of respiratory ...
Valerie R. Schwartz   +3 more
wiley   +1 more source

Neurosurgery [PDF]

open access: yes, 2009
中山 八州男   +13 more
core   +2 more sources

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods   +16 more
wiley   +1 more source

FDA Recalls of Image Guidance Systems for Sinus and Skull Base Surgery, 2003–2024

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Surgeons use stereotactic image guidance systems (IGS) to help navigate complex anatomy. However, the FDA has received reports of IGS malfunction linked to operative delays and complications. We investigated FDA recalls of IGS between 2003 and 2024.
Thriaksh Rajan   +8 more
wiley   +1 more source

A companion to the preclinical common data elements and case report forms for in vivo rodent neuroimaging: A report of the TASK3‐WG3 Neuroimaging Working Group of the ILAE/AES Joint Translational Task Force

open access: yesEpilepsia Open, EarlyView., 2022
Abstract The International League Against Epilepsy/American Epilepsy Society (ILAE/AES) Joint Translational Task Force established the TASK3 working groups to create common data elements (CDEs) for various aspects of preclinical epilepsy research studies, which could help improve the standardization of experimental designs.
Erwin A. van Vliet   +9 more
wiley   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

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