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Shatokhina, Olga
35  results:
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1

The first case of a point pathogenic variant in the RREB1 g..:

Shatokhina, Olga ; Bostanova, Fatima ; Bulakh, Maria..
Clinical Genetics.  105 (2024)  5 - p. 573-580 , 2024
Link: https://doi.org/10.1111/..
 
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2

Clinical Presentation of a Patient with a Congenital Disord..:

Semenova, Natalia ; Shatokhina, Olga ; Shchagina, Olga...
International Journal of Molecular Sciences.  24 (2023)  8 - p. 7449 , 2023
Link: https://doi.org/10.3390/..
 
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3

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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4

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearin..:

Shatokhina, Olga ; Galeeva, Nailya ; Stepanova, Anna...
International Journal of Molecular Sciences.  23 (2022)  24 - p. 15748 , 2022
Link: https://doi.org/10.3390/..
 
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5

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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6

Palmoplantar Keratoderma: A Molecular Genetic Analysis of F..:

Shchagina, Olga ; Fedotov, Valeriy ; Markova, Tatiana...
International Journal of Molecular Sciences.  23 (2022)  17 - p. 9576 , 2022
Link: https://doi.org/10.3390/..
 
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7

Audiological Evidence of Frequent Hereditary Mild, Moderate..:

Markova, Tatiana ; Alekseeva, Natalia ; Lalayants, Maria...
Journal of Personalized Medicine.  12 (2022)  11 - p. 1843 , 2022
Link: https://doi.org/10.3390/..
 
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8

Clinical, Genetic and Orthopedic Characteristics of Desbuqu..:

Markova, Tatyana V. ; Kenis, Vladimir M. ; Melchenko, Evgeniy V....
Traumatology and Orthopedics of Russia.  27 (2021)  3 - p. 71-83 , 2021
Link: https://doi.org/10.21823..
 
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9

A Two-Year Clinical Description of a Patient with a Rare Ty..:

Shatokhina, Olga ; Semenova, Natalia ; Demina, Nina...
Genes.  12 (2021)  10 - p. 1618 , 2021
Link: https://doi.org/10.3390/..
 
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10

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

Olga Shatokhina ; Valeriia Kovalskaia ; Peter Sparber...
https://www.mdpi.com/1422-0067/24/21/15572.  , 2023
Link: https://doi.org/10.3390/..
 
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11

Clinical Presentation of a Patient with a Congenital Disord..:

Natalia Semenova ; Olga Shatokhina ; Olga Shchagina...
https://www.mdpi.com/1422-0067/24/8/7449.  , 2023
Link: https://doi.org/10.3390/..
 
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12

Clinical Presentation of a Patient with a Congenital Disord..:

Natalia Semenova ; Olga Shatokhina ; Olga Shchagina...
Molecular Genetics and Genomics.  , 2023
Link: https://doi.org/10.3390/..
 
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13

Genetic and Clinical Spectrum of GNE Myopathy in Russia:

Aysylu Murtazina ; Sergey Nikitin ; Galina Rudenskaya...
Human Genomics and Genetic Diseases.  , 2022
Link: https://doi.org/10.3390/..
 
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14

Spectrum of Genes for Non- GJB2 -Related Non-Syndromic Hear..:

Olga Shatokhina ; Nailya Galeeva ; Anna Stepanova...
https://www.mdpi.com/1422-0067/23/24/15748.  , 2022
Link: https://doi.org/10.3390/..
 
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15

Genetic and Clinical Spectrum of GNE Myopathy in Russia:

Aysylu Murtazina ; Sergey Nikitin ; Galina Rudenskaya...
https://www.mdpi.com/2073-4425/13/11/1991.  , 2022
Link: https://doi.org/10.3390/..
 
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