E-LIB Suche - Ergebnisse für: Filatova, Alexandra

1

The Missing Piece of the Puzzle: Unveiling the Role of PTPN..:

Borovikov, Artem ; Galeeva, Nailya ; Marakhonov, Andrey...
Human Mutation. 2024 (2024) - p. 1-13 , 2024

Link: https://doi.org/10.1155/..

2

Annotation of uORFs in the OMIM genes allows to reveal path..:

Filatova, Alexandra ; Reveguk, Ivan ; Piatkova, Maria...
Nucleic Acids Research. 51 (2023) 3 - p. 1229-1244 , 2023

Link: https://doi.org/10.1093/..

3

Homozygous deep intronic variant in SNX14 cause autosomal r..:

Levchenko, Olga ; Filatova, Alexandra ; Mishina, Irina..
Frontiers in Genetics. 14 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

4

Deciphering the impact of coding and non-coding SCN1A gene ..:

Sparber, Peter ; Sharova, Margarita ; Davydenko, Ksenia...
Brain. 147 (2023) 4 - p. 1278-1293 , 2023

Link: https://doi.org/10.1093/..

5

Clinical and Functional Characteristics of the E92K CFTR Ge..:

Kondratyeva, Elena ; Melyanovskaya, Yuliya ; Bulatenko, Nataliya...
International Journal of Molecular Sciences. 24 (2023) 7 - p. 6351 , 2023

Link: https://doi.org/10.3390/..

6

Evaluation of Pathogenicity and Causativity of Variants in ..:

Shchagina, Olga ; Orlova, Mariya ; Murtazina, Aisylu...
International Journal of Molecular Sciences. 24 (2023) 12 - p. 9786 , 2023

Link: https://doi.org/10.3390/..

7

Publisher Correction: Processed pseudogene insertion in GLB..:

Bychkov, Igor ; Kuznetsova, Antonina ; Baydakova, Galina...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

8

Processed pseudogene insertion in GLB1 causes Morquio B dis..:

Bychkov, Igor ; Kuznetsova, Antonina ; Baydakova, Galina...
npj Genomic Medicine. 7 (2022) 1 - p. , 2022

Link: https://doi.org/10.1038/..

9

A Founder Mutation in the POMC 5′-UTR Causes Proopiomelanoc..:

Viakhireva, Iuliia ; Kalinchenko, Natalia ; Vasilyev, Evgeny...
The Journal of Clinical Endocrinology & Metabolism. 107 (2022) 9 - p. e3654-e3660 , 2022

Link: https://doi.org/10.1210/..

10

Additive effect of frequent polymorphism and rare synonymou..:

Bychkov, Igor ; Filatova, Alexandra ; Perelman, Grigory...
European Journal of Human Genetics. 30 (2021) 1 - p. 133-136 , 2021

Link: https://doi.org/10.1038/..

11

Health Characteristics of Patients with Cystic Fibrosis who..:

Kondratyeva, Elena ; Bukharova, Tatyana ; Efremova, Anna...
Genes. 12 (2021) 6 - p. 837 , 2021

Link: https://doi.org/10.3390/..

12

Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Fu..:

Konina, Daria ; Sparber, Peter ; Viakhireva, Iuliia..
International Journal of Molecular Sciences. 22 (2021) 16 - p. 8477 , 2021

Link: https://doi.org/10.3390/..

13

Functional Analysis of the PCCA and PCCB Gene Variants Pred..:

Bychkov, Igor ; Galushkin, Artur ; Filatova, Alexandra...
International Journal of Molecular Sciences. 22 (2021) 8 - p. 4154 , 2021

Link: https://doi.org/10.3390/..

14

Complex Transposon Insertion as a Novel Cause of Pompe Dise..:

Bychkov, Igor ; Baydakova, Galina ; Filatova, Alexandra...
International Journal of Molecular Sciences. 22 (2021) 19 - p. 10887 , 2021

Link: https://doi.org/10.3390/..

15

Various haploinsufficiency mechanisms in Pitt-Hopkins syndr..:

Sparber, Peter ; Filatova, Alexandra ; Anisimova, Inga...
European Journal of Medical Genetics. 63 (2020) 12 - p. 104088 , 2020

Link: https://doi.org/10.1016/..