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Last Updated: 10/31/2025
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Found 206 publications
The evolving genetic landscape of neuromuscular fetal akinesias.
Journal: Journal of neuromuscular diseases
Published: May 13, 2025
Multiple Pterygium Syndrome (Escobar Syndrome): A Rare Form of Prenatal Myasthenia Presenting With Arthrogryposis Multiplex Congenita.
Journal: Neurology
Published: June 13, 2024
Lethal multiple pterygium syndrome, large cystic hygroma, and cleft palate: Rare and severe fetal presentations of RYR1- and NEB-related congenital myopathies.
Journal: Prenatal diagnosis
Published: September 29, 2023
Recombinant cellular model system for human muscle-type nicotinic acetylcholine receptor α12β1δε.
Journal: Cell stress & chaperones
Published: August 21, 2023
FMRI Complexity Correlates with Tau-PET and Cognitive Decline in Late-Onset and Autosomal Dominant Alzheimer's Disease.
Journal: Journal of Alzheimer's disease : JAD
Published: August 21, 2023
Bi-allelic variants in MYH3 cause recessively-inherited arthrogryposis.
Journal: Clinical genetics
Published: July 04, 2023
Analysis of a case of Multiple pterygium syndrome due to a novel variant of CHRNG gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 22, 2023
Lethal multiple pterygium syndrome in a newborn, a case report.
Journal: Clinical case reports
Published: March 25, 2023
Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis.
Journal: Frontiers in pediatrics
Published: January 27, 2023
Last Updated: 10/31/2025