Related Experiment Videos
SMN dosage analysis and risk assessment for spinal muscular atrophy
American Journal of Human Genetics
|May 7, 2002
Abstract
No abstract available in PubMed .
Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Polyphenol-Enriched Fraction from Chestnut Shells as a Source of Bioactive Compounds for Friedreich Ataxia.
Molecules (Basel, Switzerland)·2026
Design and validation of cell-based potency assays for frataxin supplementation treatments.
Molecular therapy. Methods & clinical development·2025
Friedreich ataxia: what can we learn from non-GAA repeat mutations?
Neurodegenerative disease management·2025
Exome analysis of 22,319 individuals links extremely rare copy-number variants and 22q11.21 dosage to Alzheimer risk.
American journal of human genetics·2026
Long-read transcriptome analysis using IsoRanker for identifying pathogenic variants in Mendelian conditions.
American journal of human genetics·2026
RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.
American journal of human genetics·2026
Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.
American journal of human genetics·2026
Shared genetic basis and structure of syndromic and normal facial variation.
American journal of human genetics·2026
The Gabriella Miller Kids First Data Resource for genomic research in pediatric cancer and congenital anomalies.
American journal of human genetics·2026
Progress on Artificial Muscles: Material Designs, Structural Engineering, and Actuation Strategies for Advanced Applications.
Small (Weinheim an der Bergstrasse, Germany)·2026
Pilot Study: Abdominoplasty Combining Median Rectus Plication and External Oblique Muscle Advancement: The Internal Corset Technique.
Plastic and reconstructive surgery. Global open·2026
Soft tissue mechanosensing and remodeling: the core regulatory role of Piezo/TRPV4 ion channels.
Frontiers in cell and developmental biology·2026
Comparison Between the Acurate Neo and the Acurate Neo 2 Transcatheter Heart Valve System: Impact of Midframe Under-Expansion.
Catheterization and cardiovascular interventions : official journal of the Society for Cardiac Angiography & Interventions·2026
Fluorescence-Based mRNA Translation Reporter.
Methods in molecular biology (Clifton, N.J.)·2026
Direct Observation and Measurement of Membrane Tension in Xenopus laevis Animal Cap Explants Using the Mechanosensitive Dye, Flipper-TR.
Methods in molecular biology (Clifton, N.J.)·2026