Results 191 to 200 of about 216,635 (309)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman   +11 more
wiley   +1 more source

Systematic Review of Females With Intellectual Disability and MECP2 Duplication

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MECP2 Duplication Syndrome (MDS) is a rare, X‐linked neurodevelopmental disorder typically affecting males. Females with MDS have been reported and are compiled here. We conducted a systematic review (PROSPERO CRD420250652426) of PubMed, EMBASE, and Google Scholar extracting individual participant data.
Paul Malik   +10 more
wiley   +1 more source

Optimizing Electrode Design for Functional Activation of Human Pluripotent Stem Cell‐Derived Cardiomyocytes

open access: yesAdvanced NanoBiomed Research, EarlyView.
Electrical stimulation of human pluripotent stem cell‐derived cardiomyocytes is systematically investigated as a function of electrode material and configuration. Stimulation efficiency is found to be governed predominantly by electrode geometry, with increased electrode area and proximity to cells enabling more effective pacing.
Gustavo Ramirez‐Calderon   +12 more
wiley   +1 more source

Nonnative Thiol and Aniline Methylation, Including Enantioselective Dithiol Desymmetrization, by Multicomponent Cobamide‐Dependent Methyltransferases Using Unactivated Methyl Donors

open access: yesAngewandte Chemie, EarlyView.
Mixed MtaABC/MtgABC methyltransferase systems were developed for non‐native thiol and aniline methylation using the unactivated methyl donors methanol and glycine betaine. The platform enabled site‐selective and enantioselective methylation with turnover number up to 6000, representing the first enantioselective non‐native catalysis by cobamide ...
Amardeep Kumar   +3 more
wiley   +1 more source

Project Overview of the 2023-2024 Production Test of Gas Hydrate on the Alaska North Slope. [PDF]

open access: yesEnergy Fuels
Okinaka N   +6 more
europepmc   +1 more source

Origin, evolution and biogeographic dynamics of the European rabbit (Oryctolagus cuniculus) in Southwestern Europe

open access: yesThe Anatomical Record, EarlyView.
Abstract The Pleistocene is a key period for understanding the evolutionary history and palaeobiogeography of the European rabbit (Oryctolagus cuniculus). The species was first documented in southeastern Iberia at the beginning of the Middle Pleistocene and appears to have rapidly spread throughout Southwestern Europe, where it was found in numerous ...
Maxime Pelletier
wiley   +1 more source

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