Results 151 to 160 of about 82,236 (297)

Understanding implementation breakdown: lessons from a type 2 hybrid effectiveness-implementation study in residential aged care. [PDF]

open access: yesFront Health Serv
Andrews S   +8 more
europepmc   +1 more source

Chemical Ionization Mass Spectrometry: Fundamental Principles, Diverse Applications, and the Latest Technological Frontiers

open access: yesMass Spectrometry Reviews, EarlyView.
ABSTRACT The review examines the evolution of chemical ionization mass spectrometry (CI‐MS), a technique developed in 1966 by Field and Munson. CI is a soft‐ionization method that produces more intense molecular ions with less fragmentation than electron ionization (EI).
Malvika Dutt   +4 more
wiley   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

open access: yesMovement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino   +23 more
wiley   +1 more source

Structural Brain and Spinal Cord Signature of Spinocerebellar Ataxia 27B: A Multisite MRI‐Based Study

open access: yesMovement Disorders, EarlyView.
Abstract Background SCA27B is a recently described ataxia, the precise anatomical basis of which remains unclear. Objective The goal was to characterize the structural brain and spinal cord magnetic resonance imaging (MRI) signature of spinocerebellar ataxia 27B (SCA27B) using multimodal quantitative imaging.
Nadson Bruno Serra Santos   +19 more
wiley   +1 more source

Prenatal Exome Sequencing Identifies Dual Maternal‐Fetal Diagnosis of HbF Mission Bay, a Novel HBG2 Variant Associated With Methemoglobinemia, Hypoxia and Hemolytic Anemia

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Prenatal exome sequencing (ES) can establish rare genetic diagnoses in a fetus but may also lead to occult genetic diagnosis in a biological parent. We present a case of dual fetal and maternal diagnosis by prenatal ES, in a fetus with unexplained anemia and in a pregnant patient with sickle cell disease (SCD) and recurrent unexplained hypoxia.
Matthew A. Shear   +6 more
wiley   +1 more source

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