Results 191 to 200 of about 47,905 (309)

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

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan   +13 more
wiley   +1 more source

Safety and Feasibility of Magnetic Separation‐Based Blood Purification

open access: yesAdvanced NanoBiomed Research, EarlyView.
We present the preclinical biological safety and translational feasibility of a magnetic nanoparticle‐based extracorporeal blood purification platform for removal of disease‐causing blood factors. ISO 10993‐compliant studies and exaggerated worst‐case exposure models demonstrate efficient nanoparticle extraction (≥99.9%), favorable biocompatibility ...
Carlos A. Mora   +11 more
wiley   +1 more source

Choroidal Thickness and Postural Stability in Young Adults: Exploring Ocular Contributions to Balance and Fall Prevention. [PDF]

open access: yesJ Multidiscip Healthc
Althomali MM   +7 more
europepmc   +1 more source

Synergistic Advanced Oxidation and Physicochemical Treatment Strategies for Antibiotic Removal and Resistance Mitigation in Water

open access: yesAsia-Pacific Journal of Chemical Engineering, EarlyView.
ABSTRACT The presence of antibiotics in water not only causes environmental pollution but also increases the growth of antibiotic‐resistant bacterial genes, which pose serious threats to human beings and other water residents. Large numbers of people are reportedly affected by the resistant bacterial genes, as many broad‐spectrum antibiotics are not ...
Amir Zada, Shohreh Azizi
wiley   +1 more source

Functional models from limited data: A parametric and multimodal approach to anatomy and 3D kinematics of feeding in basking sharks (Cetorhinus maximus)

open access: yesThe Anatomical Record, EarlyView.
Abstract Basking sharks, Cetorhinus maximus (Gunnerus, Brugden [Squalus maximus], Det Kongelige Norske Videnskabers Selskabs Skrifter, 1765, vol. 3, pp. 33–49), feed by gaping their mouths and gill slits, greatly reorienting their cranial skeletons to filter food from water.
Tairan Li   +12 more
wiley   +1 more source

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