Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero +15 more
wiley +1 more source
Patriarchy, Fertility and Excess Female Child Mortality in India. [PDF]
Spat DemogrSingh A +7 more
europepmc +1 more source
Role of sand in the domination of hard substrata by the intertidal alga Rhodomela larix
, 1986 CM D'Antonio
openalex +1 more source
Domination and the Arts of Resistance: Hidden Transcripts. By James C. Scott. New Haven, Conn.: Yale University Press, 1990. xx, 251 pp. [PDF]
, 1992 John Rogers
openalex +1 more source
Precision‐Optimised Post‐Stroke Prognoses
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Current medicine cannot confidently predict who will recover from post‐stroke impairments. Researchers have sought to bridge this gap by treating the post‐stroke prognostic problem as a machine learning problem, reporting prediction error metrics across samples of patients whose outcomes are known.
Thomas M. H. Hope +4 more
wiley +1 more source
An exploratory study on the relationship between personal recovery and social functioning in outpatients with schizophrenia. [PDF]
Hong Kong J Occup TherWatanabe S, Taniguchi T, Sugihara M.
europepmc +1 more source
The excessive domination principle is equivalent to the weak sector condition [PDF]
, 1990 Zoran Vondraček
openalex +1 more source
Design Justice, A.I., and Escape from the Matrix of Domination
Journal of Design and Science, 2018 Sasha Costanza-Chock
semanticscholar +1 more source
Maker-Breaker domination game [PDF]
Discrete Mathematics, 2018 Éric Duchêne +3 more
semanticscholar +1 more source
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Approximately half of patients with hereditary myopathies remain without a definitive genetic diagnosis after DNA next‐generation sequencing (NGS). Here, we implemented transcriptome analysis of muscle biopsies as a complementary diagnostic tool for patients with muscle disease but no definitive genetic diagnosis after exome ...
Alba Segarra‐Casas +24 more
wiley +1 more source