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По вашему запросу найдено документов: 18

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AVPR1A MAIN EFFECT AND OXTR-BY-ENVIRONMENT INTERPLAY IN INDIVIDUAL DIFFERENCES IN DEPRESSION LEVEL

KAZANTSEVA, A.V., DAVYDOVA, YU.D., ENIKEEVA, R.F., LOBASKOVA, M.M., MUSTAFIN, R.N., MALYKH, S.B., TAKHIROVA, Z.R., KHUSNUTDINOVA, E.K. (2020)

Background: Multiple studies of depression indicated a significant role of gene

ANALYSIS OF CLINICAL MANIFESTATIONS OF NEUROFIBROMATOSIS TYPE 1 IN PATIENTS WITH NONSENSE PATHOGENIC VARIANTS IN THE NF1 GENE FROM THE REPUBLIC OF BASHKORTOSTAN

Mustafin, R.N., Bermisheva, M.A., Karunas, A.S., Akhmetshin, A.A., Monakhova, A.S., Khusnutdinova, E.K. (2025)

of 1:3164. NF1 is characterized by severe clinical manifestations with multiple cutaneous

The association study of polymorphic variants of hypothalamic-pituitary-adrenal system genes (AVPR1B, OXTR) and aggressive behavior manifestation: A focus on social environment

Kazantseva, A.V., Davydova, Y.D., Enikeeva, R.F., Valinurov, R.G., Gareeva, A.E., Khusnutdinova, N.N., Khusnutdinova, E.K. (2021)

. Statistical analysis was performed via logistic regression with correction for multiple comparisons (PLINK v.1

MICRORNA-200 FAMILY EXPRESSION ANALYSIS IN METASTATIC CLEAR CELL RENAL CELL CARCINOMA PATIENTS

GILYAZOVA, I.R., KLIMENTOVA, E.A., BERMISHEVA, M.A., KHUSNUTDINOVA, E.K., IZMAILOV, A.A., GALIMOVA, E.F., SAFIULLIN, R.I., GALIMOV, S.N., V.N. Pavlov, BULYGIN, K.V. (2020)

The aim of this study is to analyse the of expression levels of microRNA-200 family members

Нейрофиброматоз 1‑го типа: результаты собственного исследования (Республика Башкортостан)

Neurofibromatosis type 1: Results of our own study (Republic of Bashkortostan)

Mustafin, R.N., Bermisheva, M.A., Valiev, R.R., Khusnutdinova, E.K., Мустафин, Р. Н., Бермишева, М. А., Валиев, Р. Р., Хуснутдинова, Э. К. (2021)

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. (2018)

in two deaf half-brothers from one Yakut family (Eastern Siberia, Russia) with identical inner ear

МАЖОРНАЯ МУТАЦИЯ В ГЕНЕ SPAST У ПАЦИЕНТОВ С АУТОСОМНО-ДОМИНАНТНОЙ СПАСТИЧЕСКОЙ ПАРАПЛЕГИЕЙ ИЗ РЕСПУБЛИКИ БАШКОРТОСТАН

MAJOR MUTATION IN THE SPAST GENE IN PATIENTS WITH AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA FROM THE REPUBLIC OF BASHKORTOSTAN

KHIDIYATOVA, I.M., AKHMETGALEYEVA, A.F., YANKINA, M.A., KHUSNUTDINOVA, E.K., SHAVALIEVA, V.V., SAIFULLINA, E.V., MAGZHANOV, R.V., IDRISOVA, R.F., ХИДИЯТОВА И.М., АХМЕТГАЛЕЕВА А.Ф., САЙФУЛЛИНА Е.В., ИДРИСОВА Р.Ф., ЯНКИНА М.А., ШАВАЛИЕВА В.В., МАГЖАНОВ Р.В., ХУСНУТДИНОВА Э.К. (2019)

, but major mutations are rare for this disease. Study of HSP patients from 63 unrelated families from

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. (2017)

by individuals from groups with genetic risks must be included in the counseling of patients and their families

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. (2021)

(Illumina NextSeq 500) in one Yakut family with three affected siblings whose parents had preserved vision

Ассоциация Gasdermin B Gene GSDMB полиморфизма с риском аллергических заболеваний

Association of Gasdermin B Gene GSDMB Polymorphisms with Risk of Allergic Diseases

Карунас, А.С., Федорова, Ю.Ю., Гималова, Г. Ф., Эткина, Э.И., Хуснутдинова, Э.К., Karunas, A.S., Fedorova, Y.Y., Gimalova, G.F., Etkina, E.I., Khusnutdinova, E.K. (2021)

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