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Last Updated: 10/31/2025
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Found 45 publications
The evolving genetic landscape of neuromuscular fetal akinesias.
Journal: Journal of neuromuscular diseases
Published: May 13, 2025
ADGRG6-related disorder: a novel mutation resulting in distal arthrogryposis and a patchy neuropathy.
Journal: Neuromuscular disorders : NMD
Published: April 10, 2025
Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.
Journal: Brain : a journal of neurology
Published: February 21, 2025
Identification of a Founder GLDN Variant Associated With "Lethal" Arthrogryposis in Nunavik Inuit: Implications for Obstetrical and Long-Term Survivors' Management.
Journal: American journal of medical genetics. Part A
Published: November 27, 2024
ERBB3 deficiency causes a multisystemic syndrome in human patient and zebrafish.
Journal: Clinical genetics
Published: October 18, 2023
Falling through the cracks: Failing to identify compromised Miranda abilities for defendants with limited cognitive capacities.
Journal: Behavioral sciences & the law
Published: November 13, 2022
Novel variants of NEK9 associated with neonatal arthrogryposis: Two case reports and a literature review.
Journal: Frontiers in genetics
Published: July 08, 2022
Lethal Congenital Contracture Syndrome 11: A Case Report and Literature Review.
Journal: Journal of clinical medicine
Published: May 17, 2022
Progressive Respiratory Insufficiency in a Teenager with Diaphragmatic Hypomotility Due to a Novel Combination of Gliomedin Gene Variants.
Journal: Children (Basel, Switzerland)
Published: April 13, 2022
Analysis of CNTNAP1 gene variants in a Chinese pedigree affected with lethal congenital contracture syndrome type 7
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: January 25, 2022
Last Updated: 10/31/2025