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Sharova, Margarita
41  results:
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1

Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused b..:

Bostanova, Fatima ; Levchenko, Olga ; Sharova, Margarita.
Clinics and Practice.  14 (2024)  3 - p. 928-933 , 2024
Link: https://doi.org/10.3390/..
 
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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/..
 
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3

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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4

Utility of public knowledge bases for the interpretation of..:

Lebedeva, Alexandra ; Timokhin, Grigory ; Ignatova, Ekaterina...
Clinical and Experimental Medicine.  23 (2023)  6 - p. 2663-2674 , 2023
Link: https://doi.org/10.1007/..
 
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5

Rare IFT140-Associated Phenotype of Cranioectodermal Dyspla..:

Sharova, Margarita ; Markova, Tatyana ; Sumina, Maria...
Genes.  14 (2023)  8 - p. 1553 , 2023
Link: https://doi.org/10.3390/..
 
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6

Impact of the STK11/KRAS co-mutation on the response to imm..:

Olsen, Andrea ; Lebedeva, Alexandra ; Nosova, Polina...
Tumori Journal.  , 2023
Link: https://doi.org/10.1177/..
 
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7

Incidental germline findings during molecular profiling of ..:

Lebedeva, Alexandra ; Shaykhutdinova, Yulia ; Seriak, Daria...
Journal of Translational Medicine.  20 (2022)  1 - p. , 2022
Link: https://doi.org/10.1186/..
 
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8

Congenital myopathy as a new phenotype caused by two undesc..:

Sharova, Margarita ; Guseva, Darya ; Kurenkov, Alexey...
American Journal of Medical Genetics Part A.  188 (2022)  10 - p. 3100-3105 , 2022
Link: https://doi.org/10.1002/..
 
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9

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/..
 
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10

Recessive myotonia congenita caused by a homozygous splice ..:

Sparber, Peter ; Sharova, Margarita ; Filatova, Alexandra...
BMC Medical Genetics.  21 (2020)  S1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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11

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...
 
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12

Incidental germline findings during molecular profiling of ..:

Lebedeva, Alexandra ; Shaykhutdinova, Yulia ; Seriak, Daria...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8760669/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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13

Recessive myotonia congenita caused by a homozygous splice ..:

Sparber, Peter ; Sharova, Margarita ; Filatova, Alexandra...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7579786/.  , 2020
Link: http://www.ncbi.nlm.nih...
 
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14

Rare IFT140-Associated Phenotype of Cranioectodermal Dyspla..:

Margarita Sharova ; Tatyana Markova ; Maria Sumina...
https://www.mdpi.com/2073-4425/14/8/1553.  , 2023
Link: https://doi.org/10.3390/..
 
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15

Rare IFT140-Associated Phenotype of Cranioectodermal Dyspla..:

Margarita Sharova ; Tatyana Markova ; Maria Sumina...
Genetic Diagnosis.  , 2023
Link: https://doi.org/10.3390/..
 
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