Last Updated: 09/26/2026
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Found 7 publications
Structural variation in nebulin and its implications on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Structural variation in nebulin and its impact on phenotype and inheritance: establishing a dominant distal phenotype caused by large deletions.
Journal: European journal of human genetics : EJHG
Published: January 07, 2025
Safe Transition to Pembrolizumab following Ipilimumab-Induced Guillain-Barré Syndrome: A Case Report and Review of the Literature.
Journal: Case reports in oncological medicine
Published: July 02, 2019
De novo variants in SLC12A6 cause sporadic early-onset progressive sensorimotor neuropathy.
Journal: Journal of medical genetics
Published: May 15, 2019
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 11, 2018
Diaphragm pacing in amyotrophic lateral sclerosis: a literature review.
Journal: Muscle & nerve
Published: June 14, 2012
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Last Updated: 09/26/2026