E-LIB Suche - Ergebnisse für: Baydakova, Galina

1

Altered Sphingolipid Hydrolase Activities and Alpha-Synucle..:

Usenko, Tatiana ; Bezrukova, Anastasia ; Basharova, Katerina...
Metabolites. 14 (2023) 1 - p. 30 , 2023

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

2

Epidemiology and Genetics of Mucopolysaccharidosis Type VI ..:

Voskoboeva, Elena ; Semyachkina, Alla ; Miklyaev, Ochir...
Frontiers in Molecular Biosciences. 8 (2022) - p. , 2022

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

3

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Pat..:

Lipiński, Patryk ; Szczałuba, Krzysztof ; Buda, Piotr...
International Journal of Molecular Sciences. 23 (2022) 19 - p. 11424 , 2022

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

4

Effects of Traumatic Brain Injury on the Gut Microbiota Com..:

Taraskina, Anastasiia ; Ignatyeva, Olga ; Lisovaya, Darya...
Cells. 11 (2022) 9 - p. 1409 , 2022

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

5

Hyperammonemia in Russia Due to Carbonic Anhydrase VA Defic..:

Semenova, Natalia ; Marakhonov, Andrey ; Ampleeva, Maria...
International Journal of Molecular Sciences. 23 (2022) 23 - p. 15026 , 2022

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

6

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/..

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

Alteration of lysosomal enzymatic activities as risk factor..:

Bezrukova, Anastasia ; Basharova, Katerina ; Senkevich, Konstantin...
Journal of the Neurological Sciences. 429 (2021) - p. 119577 , 2021

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

9

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/..

10

Alkaptonuria in Russia: mutational spectrum and novel varia..:

Bychkov, Igor ; Kamenets, Elena ; Kurkina, Marina...
European Journal of Medical Genetics. 64 (2021) 4 - p. 104165 , 2021

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

11

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/..

12

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasm..:

Ługowska, Agnieszka ; Baydakova, Galina ; Ilyushkina, Alex...
Diagnostics. 11 (2021) 2 - p. 320 , 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

Glucocerebrosidase activity and transport to lysosomes in p..:

Kopytova, Alena ; Nikolaev, Mikhail ; Bogdanova, Darya...
Journal of the Neurological Sciences. 429 (2021) - p. 119511 , 2021

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

15

Biallelic MFSD2A variants associated with congenital microc..:

Scala, Marcello ; Chua, Geok Lin ; Chin, Cheen Fei...
European Journal of Human Genetics. 28 (2020) 11 - p. 1509-1519 , 2020

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