27 results on '"Buglo, Elena"'
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2. Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
3. Autoimmune Reaction Associated With Long COVID Syndrome and Cardiovascular Disease
4. Identification of cellular targets of a series of boron heterocycles using TIPA II—A sensitive target identification platform
5. Scientific and medical basis of CRISPR/CAS9 and genome editing
6. Zebrafish: A Pharmacogenetic Model for Anesthesia
7. Author Correction: Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
8. Erratum to: A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
9. A CADM3 variant causes Charcot-Marie-Tooth disease with marked upper limb involvement
10. Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease
11. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
12. Insights into the genotype-phenotype correlation and molecular function of SLC25A46
13. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
14. Biallelic mutations in SORDcause a common and potentially treatable hereditary neuropathy with implications for diabetes
15. Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish
16. The Roll of COMMD1 in Membrane Protein Trafficking
17. Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
18. New Angular Polycyclic Aromatic Boron Heterocycle Ring Systems
19. Biallelic expansion of an intronic repeat in RFC1is a common cause of late-onset ataxia
20. New Angular Polycyclic Aromatic Boron Heterocycle Ring Systems.
21. Synthesis, Characterization, and Antibacterial Activity of Structurally Complex 2‐Acylated 2,3,1‐Benzodiazaborines and Related Compounds
22. Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish.
23. Author Correction: Biallelic mutations in SORDcause a common and potentially treatable hereditary neuropathy with implications for diabetes
24. Mutations in ATP1A1 Cause Dominant Charcot-Marie-Tooth Type 2
25. Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
26. Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
27. Zebrafish: A Pharmacogenetic Model for Anesthesia.
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