Results 171 to 180 of about 29,469 (307)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Predictors of Success on the Prosthetics Certification Examination

open access: yes, 2014
Students who graduate from a practitioner program in prosthetics & orthotics must achieve certification in order to obtain licensure and practice independently in 16 states.
Miro, Rebecca M.
core  

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Natural Aging of Biomaterials in Ambient and Physiological Environments

open access: yesAdvanced NanoBiomed Research, EarlyView.
Biomaterials used in biomedical applications can change their physical properties over time, even under ambient and physiological conditions. This review highlights key studies on the natural aging of materials ranging from soft hydrogels to metals and ceramics, emphasizing how time‐dependent changes influence function and performance.
Shuyu Zhang, Anne E. Staples
wiley   +1 more source

Injectable Bone Cements: A Generational Framework for Bioactivity, Porosity, and Mechanobiological Design at the Nanoscale

open access: yesAdvanced NanoBiomed Research, EarlyView.
Key demographic, biological, and material considerations that drive the need for advanced injectable bone cement technologies. Injectable bone cements (IBCs) are widely used in orthopaedic and craniofacial applications due to their minimally invasive delivery and ability to provide early mechanical stabilisation.
Frank Fei   +2 more
wiley   +1 more source

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