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Last Updated: 10/31/2025
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Found 2672 publications
Non-SMN-linked Spinal Muscular Atrophy: From Genes to Clinical Phenotypes via Diagnostic Implications; A Systematic Review.
Journal: Journal of child neurology
Published: October 15, 2025
Expert consensus on the clinical diagnosis and management of Arthrogryposis multiplex congenita (2025 Edition)
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: September 14, 2025
Knee Disarticulation in Amyoplasia: A Quality-of-Life Salvage Intervention: A Report of 2 Cases.
Journal: JBJS case connector
Published: July 10, 2025
Hereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report.
Journal: Medicine
Published: July 09, 2025
Cache Valley virus serologically identified in sheep with congenitally malformed lambs in Alabama.
Journal: American journal of veterinary research
Published: June 12, 2025
A homozygous single-nucleotide variant in TNNT1 causes abnormal troponin T isoform expression in a patient with severe nemaline myopathy: A case report.
Journal: Journal of neuromuscular diseases
Published: May 21, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Pathogenic variants in BORCS5 Cause a Spectrum of Neurodevelopmental and Neurodegenerative Disorders with Lysosomal Dysfunction.
Journal: medRxiv : the preprint server for health sciences
Published: May 19, 2025
Clinical and genetic analysis of a pedigree affected with Distal arthrogryposis type 5D due to compound heterozygous variants of ECEL1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: May 15, 2025
The evolving genetic landscape of neuromuscular fetal akinesias.
Journal: Journal of neuromuscular diseases
Published: May 13, 2025
Detection of mosaic 1q21.1 microdeletion in a fetus associated with megacystis and arthrogryposis of bilateral hands.
Journal: Taiwanese journal of obstetrics & gynecology
Published: May 08, 2025
Last Updated: 10/31/2025