Publications
- Lower urinary tract functions in a series of Charcot-Marie-Tooth neuropathy patients2014 | Second Faculty of Medicine
- X-linked Myotubular Myopathy: a Novel Mutation in the MTM-1 Gene - Case Reports2013 | First Faculty of Medicine, Second Faculty of Medicine
- EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus2013 | Second Faculty of Medicine
- Congenital Myasthenia as a Cause of Respiratory Failure in two Infants and a Toddler - Case Reports2012 | Second Faculty of Medicine
- Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study2008 | Second Faculty of Medicine
- Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general gypsy population and individual subisolates2007 | Second Faculty of Medicine
- Congenital myasthenic syndrome2007 | Second Faculty of Medicine
- Hereditary peripheral neuropathy2006 | Second Faculty of Medicine
- GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study2005 | Second Faculty of Medicine
- Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP): Reliable detection of the CMT1A duplication and HNPP deletion using 8 microsatellite markers in 2 multiplex PCRs2000 | Second Faculty of Medicine
Loading network view...
