Results 301 to 310 of about 2,123,274 (395)

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

open access: yesClinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo   +7 more
wiley   +1 more source

Longitudinal decline in upper‐limb range of motion in adults with cerebral palsy

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Plain language summary: https://onlinelibrary.wiley.com/doi/10.1111/dmcn.70014 Abstract To analyse longitudinal changes in passive range of motion (ROM) in the upper limb in adults with cerebral palsy (CP). Method Passive ROM for shoulder abduction and flexion, supination, and elbow and wrist extension was analysed in a longitudinal cohort of adults ...
Erika Cloodt   +6 more
wiley   +1 more source

Distinct clinical clusters of paediatric patients with status epilepticus: Retrospective cohort study

open access: yesDevelopmental Medicine &Child Neurology, EarlyView.
Large Swiss cohort of paediatric status epilepticus demonstrates that treatment delay (> 60 min) directly contributes to morbidity. Machine‐learning analysis of routine clinical data identifies three distinct patient clusters: febrile status epilepticus, severe para‐infectious status epilepticus, and status epilepticus in children with known epilepsy ...
Richard J Burman   +6 more
wiley   +1 more source

Assessing thoughts, feelings and behaviours related to hypoglycaemia: Psychometric evaluation of the Hypoglycaemia Cues Questionnaire (HypoC‐Q)

open access: yesDiabetic Medicine, EarlyView.
Abstract Aims To describe the design and examine the psychometric properties of the Hypoglycaemia Cues Questionnaire (HypoC‐Q) for assessing thoughts, feelings, and behaviours related to hypoglycaemia among adults with type 1 diabetes (T1D). Methods The HypoC‐Q was designed iteratively, informed by exploratory interviews with 17 adults with T1D with ...
Uffe Søholm   +13 more
wiley   +1 more source

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