Found: 6
Select item for more details and to access through your institution.
Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe.
- Published in:
- Human Genetics, 2000, v. 106, n. 3, p. 259, doi. 10.1007/s004390000246
- By:
- Publication type:
- Article
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech gypsy children – frequent and underestimated cause of disability among Czech gypsies.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-46
- By:
- Publication type:
- Article
Congenital cataract, facial dysmorphism and demyelinating neuropathy (CCFDN) in 10 Czech Gypsy children--frequent and underestimated cause of disability among Czech Gypsies.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Four novel point mutations in the PMP22 gene with phenotypes of HNPP and Dejerine-Sottas neuropathy.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 5, p. 819, doi. 10.1002/mus.22189
- By:
- Publication type:
- Article
Spectrum and frequencies of mutations in the MFN2 gene and its phenotypical expression in Czech hereditary motor and sensory neuropathy type II patients.
- Published in:
- Molecular Medicine Reports, 2013, v. 8, n. 6, p. 1779, doi. 10.3892/mmr.2013.1730
- By:
- Publication type:
- Article
Three New PLP1 Splicing Mutations Demonstrate Pathogenic and Phenotypic Diversity of Pelizaeus-Merzbacher Disease.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 7, p. 924, doi. 10.1177/0883073813492387
- By:
- Publication type:
- Article