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O. A. Schagina
O. A. Schagina
Genetics
Medicine
Missense mutation
Gene
Biology
5
Papers
3
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0
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2024
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Clinical and genetic characteristics of the early 66th type epileptic encephalopathy (literature review and own observation)
2020
T. V. Markova
A. O. Borovikov
Ekaterina Lozier
A. A. Isaev
V. S. Kaimonov
E.A. Pomerantseva
F. A. Konovalov
O. A. Schagina
E. L. Dadali
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Complex Molecular Diagnostics of Hemophilia A in Russian Patients
2019
Russian Journal of Genetics
T. S. Beskorovainaya
T.B. Milovidova
O. A. Schagina
O. P. Ryzhkova
A. V. Polyakov
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Clinical and genetic characteristics of the syndrome of contractures of the limbs and face, hypothony and psychomotor retardation (OMIM: 616 266), caused by mutations in the NALCN gene
2019
A. O. Borovikov
I. V. Sharkova
O. P. Ryzhkova
A. L. Chukhrova
O. A. Schagina
T. V. Markova
E. L. Dadali
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X‐linked hypohidrotic ectodermal dysplasia: clinical and molecular genetic analysis of a large Russian family with a synonymous p.Ser267= (c.801A>G) splice site mutation
2019
Journal of The European Academy of Dermatology and Venereology
T.B. Milovidova
O. A. Schagina
M.V. Freire
N. A. Demina
A.Y. Filatova
M. Y. Skoblov
A. A. Stepanova
A.L. Chuhrova
A. V. Polyakov
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HTT Gene Premutation Allele Frequencies in the Russian Federation
2018
Russian Journal of Genetics
Vv Zabnenkova
O. A. Schagina
Nm Galeeva
S. V. Kopishinskaya
A. V. Polyakov
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