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Sparber, Peter
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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/..
 
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2

A Rare Coincidence of Three Inherited Diseases in a Family ..:

Bukaeva, Anna ; Myasnikov, Roman ; Kulikova, Olga...
International Journal of Molecular Sciences.  25 (2024)  14 - p. 7556 , 2024
Link: https://doi.org/10.3390/..
 
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3

Functional investigation of SCN1A deep-intronic variants ac..:

Sparber, Peter ; Bychkov, Igor ; Pyankov, Denis.
Human Genetics.  142 (2023)  8 - p. 1043-1053 , 2023
Link: https://doi.org/10.1007/..
 
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4

GABRA1‐Related Disorders: From Genetic to Functional Pathwa..:

Musto, Elisa ; Liao, Vivian W. Y. ; Johannesen, Katrine M....
Annals of Neurology.  95 (2023)  1 - p. 27-41 , 2023
Link: https://doi.org/10.1002/..
 
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5

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/..
 
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6

TRA2B Gene Splice Variant Linked to Seizures and Neurodevel..:

Shatokhina, Olga ; Kovalskaia, Valeriia ; Sparber, Peter...
International Journal of Molecular Sciences.  24 (2023)  21 - p. 15572 , 2023
Link: https://doi.org/10.3390/..
 
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7

Phenotype and natural history of mitochondrial membrane pro..:

Iankova, Vassilena ; Sparber, Peter ; Rohani, Mohammad...
Brain.  147 (2023)  4 - p. 1389-1398 , 2023
Link: https://doi.org/10.1093/..
 
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8

Complex Chromosomal Rearrangement Involving Chromosomes 10 ..:

Marakhonov, Andrey V. ; Vasilyeva, Tatyana A. ; Minzhenkova, Marina E....
International Journal of Molecular Sciences.  24 (2023)  23 - p. 16923 , 2023
Link: https://doi.org/10.3390/..
 
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9

Case Report: Phenotype-Driven Diagnosis of Atypical Dravet-..:

Sharkov, Artem ; Sparber, Peter ; Stepanova, Anna...
Frontiers in Genetics.  13 (2022)  - p. , 2022
Link: https://doi.org/10.3389/..
 
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10

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/..
 
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11

Specificities of the DMD Gene Mutation Spectrum in Russian ..:

Zinina, Elena ; Bulakh, Maria ; Chukhrova, Alena...
International Journal of Molecular Sciences.  23 (2022)  21 - p. 12710 , 2022
Link: https://doi.org/10.3390/..
 
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12

De novo missense variants in FBXO11 alter its protein expre..:

Gregor, Anne ; Meerbrei, Tanja ; Gerstner, Thorsten...
Human Molecular Genetics.  31 (2021)  3 - p. 440-454 , 2021
Link: https://doi.org/10.1093/..
 
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13

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/..
 
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14

Case Report: Functional Investigation of an Undescribed Mis..:

Sparber, Peter ; Mikhaylova, Svetlana ; Galkina, Varvara..
Frontiers in Neurology.  12 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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15

Retrospective analysis of 17 patients with mitochondrial me..:

Sparber, Peter ; Krylova, Tatiana ; Repina, Svetlana...
Parkinsonism & Related Disorders.  84 (2021)  - p. 98-104 , 2021
Link: https://doi.org/10.1016/..
 
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