Results 171 to 180 of about 265,771 (343)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

open access: yesAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses   +21 more
wiley   +1 more source

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf   +2 more
wiley   +1 more source

Observation of Surface 2D Electron Gas in Highly Bulk‐Insulating Bi4I4

open access: yesAnnalen der Physik, EarlyView.
An annealing treatment is used to realize the tuning of the Fermi level of bulk crystals of the topological insulator Bi4I4. With appropriate annealing time, the crystals can be very insulating, along with the quantum oscillations of the surface state.
Dong Chen   +4 more
wiley   +1 more source

Greek Protected Designation of Origin Xinomavro Wines: A Deep Dive into Their Chemical Composition and Geographical Origin by Using Ultra High Performance Liquid Chromatography–Trapped Ion Mobility Spectrometry–Quadrupole Time of Flight–Mass Spectrometry

open access: yesAnalysis &Sensing, EarlyView.
Greek protected designation of origin Xinomavro wines are analyzed with ultra high performance liquid chromatography–trapped ion mobility spectrometry–quadrupole time of flight‐mass spectrometry (UHPLC‐TIMS‐QTOF‐MS). Both target and not‐target screening approaches are employed, leading to the identification and quantification of several polyphenols and
Panagiotis‐Loukas Gialouris   +6 more
wiley   +1 more source

Berry curvature memory through electrically driven stacking transitions

open access: yes, 2019
Jun Xiao   +17 more
semanticscholar   +1 more source

Biodegradable Sodium Alginate Films Incorporated With Microcapsules of Amazonian Buriti Fruit Oil (Mauritia flexuosa L.)

open access: yesJournal of the American Oil Chemists' Society, EarlyView.
ABSTRACT Pollution caused by plastic polymers is a growing concern as it compromises biodiversity and human health. As a sustainable solution, developing biodegradable films, such as sodium alginate, is promising due to its low vapor permeability, flexibility, gloss, and cost‐effectiveness.
Cecília Roratto Köhn   +3 more
wiley   +1 more source

Home - About - Disclaimer - Privacy