Results 191 to 200 of about 182,656 (351)
Prenatal Diagnosis, EarlyView.ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa +7 more
wiley +1 more source
Preclinical assessment of GNE<sup>wt</sup>/bi-shRNA-GNE<sup>M743T</sup> lipoplex product development for GNE myopathy. [PDF]
Future Sci OAKerneis F +11 more
europepmc +1 more source
Physical rehabilitation for critical illness myopathy and neuropathy (Protocol)
, 2014 Protocol for a review - no ...
Burridge, Jane +4 more
core
Acute Necrotizing Myopathy and Acute Renal Failure in Association with Acute Severe Asthma [PDF]
, 1994 Michael J. O’Leary +2 more
openalex +1 more source
POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation
Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou +4 more
wiley +1 more source
Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases
Prenatal Diagnosis, EarlyView.ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei +9 more
wiley +1 more source
Clinical Findings, Antibody Panel and Pathology of Patients with Inflammatory Myopathies in Isfahan Province, Iran. [PDF]
Adv Biomed ResAnsari B, Basiri K, Soroush F.
europepmc +1 more source
A Novel Mutation in the Desmin Gene with an Infantile Autosomal Recessive Myopathy [PDF]
, 2012 Mohamed Saad Serria +2 more
openalex +1 more source