Case reports in genetics

Case reports in genetics Journal

publication venue for

['Resolving a Multi-Generational Neuromuscular Mystery in a Family Presenting with a Variable Scapuloperoneal Syndrome in a c.464G>A, p.Arg155His', 'Mutation.'] 2019
T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature. 2018
['V144D Mutation of', 'Can Present with Both Painful and Painless Phenotypes in Hereditary Sensory and Autonomic Neuropathies Type I.'] 2018
Progressive Lower Extremity Weakness and Axonal Sensorimotor Polyneuropathy from a Mutation in KIF5A (c.611G>A;p.Arg204Gln). 2015
Rare Manifestation of a c.290 C>T, p.Gly97Glu VCP Mutation. 2015
Clinical report of a 17q12 microdeletion with additionally unreported clinical features. 2014
Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome? 2014

International Standard Serial Number (ISSN)

2090-6544

journal abbreviation

Case Rep Genet