E-LIB Suche - Ergebnisse für: Ampleeva, Maria

1

Variable clinical presentation of split hand/foot malformat..:

Akimova, Daria ; Markova, Tatiana ; Ampleeva, Maria.
Frontiers in Genetics. 14 (2024) - p. , 2024

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

2

Case report: Unusual episodic myopathy in a patient with no..:

Sharova, Margarita ; Skoblov, Mikhail ; Dadali, Elena...
Frontiers in Neurology. 13 (2022) - p. , 2022

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

3

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/..

4

A Novel Homozygous Variant in the COMP Gene Causing a Multi..:

Markova, Tatiana ; Murtazina, Aysylu ; Kenis, Vladimir...
International Journal of Translational Medicine. 2 (2022) 2 - p. 210-219 , 2022

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

5

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/..

6

Case report: Unusual episodic myopathy in a patient with no..:

Sharova, Margarita ; Skoblov, Mikhail ; Dadali, Elena...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679209/. , 2022

Link: http://www.ncbi.nlm.nih...

7

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

Semenova, Natalia ; Marakhonov, Andrey ; Ampleeva, Maria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9739189/. , 2022

Link: http://www.ncbi.nlm.nih...

8

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

Bychkov, Igor ; Baydakova, Galina ; Filatova, Alexandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8509548/. , 2021

Link: http://www.ncbi.nlm.nih...

9

Variable clinical presentation of split hand/foot malformat..:

Daria Akimova ; Tatiana Markova ; Maria Ampleeva.
https://www.frontiersin.org/articles/10.3389/fgene.2023.1303807/full. , 2024

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

10

A Novel Homozygous Variant in the COMP Gene Causing a Multi..:

Tatiana Markova ; Aysylu Murtazina ; Vladimir Kenis...
https://dx.doi.org/10.3390/ijtm2020019. , 2022

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

11

Case report: Unusual episodic myopathy in a patient with no..:

Margarita Sharova ; Mikhail Skoblov ; Elena Dadali...
https://www.frontiersin.org/articles/10.3389/fneur.2022.1008937/full. , 2022

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

12

A Novel Homozygous Variant in the COMP Gene Causing a Multi..:

Tatiana Markova ; Aysylu Murtazina ; Vladimir Kenis...
https://www.mdpi.com/2673-8937/2/2/19. , 2022

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

13

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

Natalia Semenova ; Andrey Marakhonov ; Maria Ampleeva...
Molecular Genetics and Genomics. , 2022

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

14

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

Natalia Semenova ; Andrey Marakhonov ; Maria Ampleeva...
https://www.mdpi.com/1422-0067/23/23/15026. , 2022

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

15

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

Igor Bychkov ; Galina Baydakova ; Alexandra Filatova...
https://www.mdpi.com/1422-0067/22/19/10887. , 2021

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