E-LIB Suche - Ergebnisse für: Borovikov, Artem

1

Mild phenotype of CHAT-associated congenital myasthenic syn..:

Murtazina, Aysylu ; Borovikov, Artem ; Marakhonov, Andrey...
Frontiers in Pediatrics. 12 (2024) - p. , 2024

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

2

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/..

3

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
Brain. 146 (2023) 12 - p. 5198-5208 , 2023

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

4

Expanding the Phenotype of Hereditary Congenital Facial Par..:

Murtazina, Aysylu ; Borovikov, Artem ; Kuchina, Anna...
International Journal of Molecular Sciences. 25 (2023) 1 - p. 129 , 2023

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

5

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopm..:

Nagy, Dóra ; Verheyen, Sarah ; Wigby, Kristen M....
Genes. 13 (2022) 1 - p. 154 , 2022

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

6

Genetic and Clinical Spectrum of GNE Myopathy in Russia:

Murtazina, Aysylu ; Nikitin, Sergey ; Rudenskaya, Galina...
Genes. 13 (2022) 11 - p. 1991 , 2022

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

7

The First Russian Patient with Native American Myopathy:

Murtazina, Aysylu ; Demina, Nina ; Chausova, Polina...
Genes. 13 (2022) 2 - p. 341 , 2022

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

8

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficienc..:

Bayat, Allan ; Pendziwiat, Manuela ; Obersztyn, Ewa...
Frontiers in Genetics. 12 (2021) - p. , 2021

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

9

Clinical and genetic characterization of autosomal recessiv..:

Markova, Tatiana ; Sparber, Peter ; Borovikov, Artem..
Molecular Genetics & Genomic Medicine. 9 (2021) 3 - p. , 2021

Link: https://doi.org/10.1002/..

10

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/..

11

Genetic Heterogeneity of X-Linked Ichthyosis in the Republi..:

Vasilyeva, Tatyana A. ; Marakhonov, Andrey V. ; Tebieva, Inna S....
International Journal of Molecular Sciences. 24 (2023) 5 - p. 4515 , 2023

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

12

P196: GestaltMatcher Database: A FAIR database for medical ..:

Lesmann, Hellen ; Moosa, Shahida ; Pantel, Tori...
Genetics in Medicine Open. 1 (2023) 1 - p. 100225 , 2023

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

13

Expanding the Phenotype of Hereditary Congenital Facial Par..:

Murtazina, Aysylu ; Borovikov, Artem ; Kuchina, Anna...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10779017/. , 2023

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

14

SLC6A1 variant pathogenicity, molecular function and phenot..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
https://pure.au.dk/portal/en/publications/5e9a4c35-ce47-4395-8783-f8d929c14743. , 2023

Link: https://pure.au.dk/porta..

15

SLC6A1 variant pathogenicity, molecular function, and pheno..:

Stefanski, Arthur ; Pérez-Palma, Eduardo ; Brünger, Tobias...
https://doi.org/10.1093/brain/awad292. , 2023

Link: http://orbilu.uni.lu/han..