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1. Ethnicity-related DMD Genotype Landscapes in European and Non-European Countries. (February 2021)

2. Impact of KCNQ2 mutations in Bulgarian patients with electroclinical syndromes with onset in the first year of life. Issue 1 (2nd January 2017)

3. Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies. Issue 3 (13th March 2015)

4. Novel Mutations in the DYNC1H1 Tail Domain Refine the Genetic and Clinical Spectrum of Dyneinopathies. Issue 3 (March 2015)

5. One Novel and One Recurrent Mutation in IGHMBP2 Gene, Causing Severe Spinal Muscular Atrophy Respiratory Distress 1 With Onset Soon After Birth. (June 2014)

6. Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy. (10th June 2015)

7. Three novel SLC2A1 mutations in Bulgarian patients with different forms of genetic generalized epilepsy reflecting the clinical and genetic diversity of GLUT1-deficiency syndrome. (January 2018)