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Autosomal recessive cataract (CTRCT18) in the Yakut population isolate of Eastern Siberia: a novel founder variant in the FYCO1 gene
Barashkov, N.A., Konovalov, F.A., Borisova, T.V., Teryutin, F.M., Solovyev, A.V., Pshennikova, V.G., Sapojnikova, N.V., Vychuzhina, L.S., Romanov, G.P., Gotovtsev, N.N., Morozov, I.V., Bondar, A.A., Platonov, F.A., Burtseva, T.E., Khusnutdinova, E.K., Posukh, O.L., Fedorova, S.A.
SPECTRUM AND FREQUENCY OF THE GJB2 GENE PATHOGENIC VARIANTS IN A LARGE COHORT OF PATIENTS WITH HEARING IMPAIRMENT LIVING IN A SUBARCTIC REGION OF RUSSIA (THE SAKHA REPUBLIC)
Barashkov, Nikolay A., Pshennikova, Vera G., Posukh, Olga L., Teryutin, Fedor M., Solovyev, Aisen V., Klarov, Leonid A., Romanov, Georgii P., Gotovtsev, Nyurgun N., Kozhevnikov, Andrey A., Kirillina, Elena V., Sidorova, Oksana G., Vasilyevа, Lena M., Fedotova, Elvira E., Morozov, Igor V., Bondar, Alexander A., Solovyevа, Natalya A., Kononova, Sardana K., Rafailov, Adyum M., Sazonov, Nikolay N., Alekseev, Anatoliy N., Tomsky, Mikhail I., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A.
SPECTRUM AND FREQUENCY OF THE GJB2 GENE PATHOGENIC VARIANTS IN A LARGE COHORT OF PATIENTS WITH HEARING IMPAIRMENT LIVING IN A SUBARCTIC REGION OF RUSSIA (THE SAKHA REPUBLIC)
Barashkov, Nikolay A., Pshennikova, Vera G., Posukh, Olga L., Teryutin, Fedor M., Solovyev, Aisen V., Klarov, Leonid A., Romanov, Georgii P., Gotovtsev, Nyurgun N., Kozhevnikov, Andrey A., Kirillina, Elena V., Sidorova, Oksana G., Vasilyevа, Lena M., Fedotova, Elvira E., Morozov, Igor V., Bondar, Alexander A., Solovyevа, Natalya A., Kononova, Sardana K., Rafailov, Adyum M., Sazonov, Nikolay N., Alekseev, Anatoliy N., Tomsky, Mikhail I., Dzhemileva, Lilya U., Khusnutdinova, Elza K., Fedorova, Sardana A.
A new approach to estimating the prevalence of hereditary hearing loss: An analysis of the distribution of sign language users based on census data in Russia
Romanov, G.P., Pshennikova, V.G., Lashin, S.A., Solovyev, A.V., Teryutin, F.M., Cherdonova, A.M., Borisova, T.V., Sazonov, N.N., Khusnutdinova, E.K., Posukh, O.L., Fedorova, S.A., Barashkov, N.A.
A NOVEL PATHOGENIC VARIANT C.975G>A (P.TRP325*) IN THE POU3F4 GENE IN YAKUT FAMILY (EASTERN SIBERIA, RUSSIA) WITH THE X-LINKED DEAFNESS-2 (DFNX2)
BARASHKOV, N.A., KLAROV, L.A., TERYUTIN, F.M., SOLOVYEV, A.V., PSHENNIKOVA, V.G., ROMANOV, G.P., TOMSKY, M.I., FEDOROVA, S.A., KONNIKOVA, E.E., TOBOKHOV, A.V., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L., DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K.
Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found
A NOVEL PATHOGENIC VARIANT C.975G>A (P.TRP325*) IN THE POU3F4 GENE IN YAKUT FAMILY (EASTERN SIBERIA, RUSSIA) WITH THE X-LINKED DEAFNESS-2 (DFNX2)
BARASHKOV, N.A., KLAROV, L.A., TERYUTIN, F.M., SOLOVYEV, A.V., PSHENNIKOVA, V.G., ROMANOV, G.P., TOMSKY, M.I., FEDOROVA, S.A., KONNIKOVA, E.E., TOBOKHOV, A.V., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L., DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K.
Here, we report a novel hemizygous transition c.975G>A (p.Trp325*) in POU3F4 gene (Xq21) found
COMPARISON OF PREDICTIVE IN SILICO TOOLS ON MISSENSE VARIANTS IN GJB2, GJB6, AND GJB3 GENES ASSOCIATED WITH AUTOSOMAL RECESSIVE DEAFNESS 1A (DFNB1A)
PSHENNIKOVA, V.G., BARASHKOV, N.A., ROMANOV, G.P., TERYUTIN, F.M., SOLOV'EV, A.V., GOTOVTSEV, N.N., NIKANOROVA, A.A., FEDOROVA, S.A., NAKHODKIN, S.S., SAZONOV, N.N., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L, DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K.
COMPARISON OF PREDICTIVE IN SILICO TOOLS ON MISSENSE VARIANTS IN GJB2, GJB6, AND GJB3 GENES ASSOCIATED WITH AUTOSOMAL RECESSIVE DEAFNESS 1A (DFNB1A)
PSHENNIKOVA, V.G., BARASHKOV, N.A., ROMANOV, G.P., TERYUTIN, F.M., SOLOV'EV, A.V., GOTOVTSEV, N.N., NIKANOROVA, A.A., FEDOROVA, S.A., NAKHODKIN, S.S., SAZONOV, N.N., MOROZOV, I.V., BONDAR, A.A., POSUKH, O.L, DZHEMILEVA, L.U., KHUSNUTDINOVA, E.K.
OPINIONS OF HEARING PARENTS ABOUT THE CAUSES OF HEARING IMPAIRMENT OF THEIR CHILDREN WITH BIALLELIC GJB2 MUTATIONS
Solovyev, A.V., Dzhemileva, L.U., Posukh, O.L., Barashkov, N.A., Bady-Khoo, M.S., Lobov, S.L., Popova, N.Y., Romanov, G.P., Sazonov, N.N., Bondar, A.A., Morozov, I.V., Tomsky, M.I., Fedorova, S.A., Khusnutdinova, E.K.
OPINIONS OF HEARING PARENTS ABOUT THE CAUSES OF HEARING IMPAIRMENT OF THEIR CHILDREN WITH BIALLELIC GJB2 MUTATIONS
Solovyev, A.V., Dzhemileva, L.U., Posukh, O.L., Barashkov, N.A., Bady-Khoo, M.S., Lobov, S.L., Popova, N.Y., Romanov, G.P., Sazonov, N.N., Bondar, A.A., Morozov, I.V., Tomsky, M.I., Fedorova, S.A., Khusnutdinova, E.K.

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