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Population Characteristics of the Spectrum and Frequencies of CFTR Gene Mutations in Patients with Cystic Fibrosis from the Republic of Bashkortostan (Russia)
Ayupova, Guzel, Litvinov, Sergey, Akhmetova, Vita, Minniakhmetov, Ildar, Mokrysheva, Natalia, Khusainova, Rita (2024)
regulator gene (CFTR) mutations in the population, which is determined by genetic diversity and ethnicity
Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia
Khidiyatova, I.M., Saifullina, E.V., Karunas, A.S., Akhmetgaleyeva, A.F., Kutlubaeva, R.F., Smakova, L.A., Lobov, S.L., Polyakov, A.V., Shchagina, O.A., Kadnikova, V.A., Ryzhkova, O.P., Magzhanov, R.V. (2022)
predominant lesion of the pyramidal tract. The autosomal dominant form of SPG3A, associated with mutations
Does the c.-14C>T Mutation in the IFITM5 Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review
Tyurin, Anton, Merkuryeva, Elena, Zaripova, Aliya, Markova, Tatyana, Nagornova, Tatyana, Dantsev, Ilya, Nadyrshina, Dina, Zakharova, Ekaterina, Khusainova, Rita (2022)
shown that a mutation (c.-14C>T) in the IFITM5 gene is responsible for autosomal dominant OI type V
Роль ретроэлементов генома человека в развитии сахарного диабета 1-го типа
The role of retroelements of the human genome in the development of type 1 diabetes mellitus
Mustafin, Rustam N., Мустафин, Р.Н. (2024)
ЗНАЧЕНИЕ МИТОХОНДРИЙ В ПАТОГЕНЕЗЕ ЗАБОЛЕВАНИЙ
THE IMPORTANCE OF MITOCHONDRIA IN DISEASE PATHOGENESIS
Салиева, А.И., Salieva, A.I. (2024)
mutations
Osteogenesis Imperfecta: Search for Mutations in Patients from the Republic of Bashkortostan (Russia)
Nadyrshina, D., Zaripova, A., Tyurin, A., Minniakhmetov, I., Zakharova, E., Khusainova, R. (2022)
in patients from Bashkortostan Republic, Russia. In total, 16 mutations in COL1A1, 11 mutations in COL1A2
ЛЕЧЕНИЕ И ОСОБЕННОСТИ ТЕЧЕНИЯ НАСЛЕДСТВЕННОГО РАКА ЯИЧНИКОВ
TREATMENT AND FEATURES OF HEREDITARY OVARIAN CANCER
Фаисханова, Р.Р., Сакаева, Д.Д., Хуснутдинова, Э.К., Faiskhanova, R.R., Sakaeva, D.D., Khusnutdinova, E.K. (2021)
СПЕКТР И ЧАСТОТА МУТАЦИЙ В ГЕНАХ BRCA1, BRCA2, CHEK2, PALB2 И RAD50 У ПАЦИЕНТОК С РАКОМ МОЛОЧНОЙ ЖЕЛЕЗЫ В РЕСПУБЛИКЕ БАШКОРТОСТАН
SPECTRUM AND FREQUENCY OF BRCA1, BRCA2, CHEK2, PALB2, RAD50 MUTATIONS IN BREAST CANCER PATIENTS IN THE REPUBLIC OF BASHKORTOSTAN
ПУШКАРЁВ, А.В., СУЛТАНБАЕВА, Н.И., ПУШКАРЁВ, В.А., НАСРЕТДИНОВ, А.Ф., МЕНЬШИКОВ, К.В., МУСИН, Ш.И., МИННИАХМЕТОВ, И.Р., ГИЛЯЗОВА, И.Р., ИЗМАЙЛОВ, А.А., СУЛТАНБАЕВ, А.В., PUSHKAREV, A.V., SULTANBAEVA, N.I., PUSHKAREV, V.A., NASRETDINOV, A.F., MENSHIKOV, K.V., MUSIN, SH.I., MINNIAKHMETOV, I.R., GILYAZOVA, I.R., IZMAILOV, A.A., SULTANBAEV, A.V. (2020)
SPECTRUM AND FREQUENCY OF BRCA1, BRCA2, CHEK2, PALB2, RAD50 MUTATIONS IN BREAST CANCER PATIENTS
A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers
Coignard, J., Lush, M., Beesley, J., O’Mara, T.A., Dennis, J, Tyrer, J.P., Barnes, D.R., McGuffog, L., Leslie, G., Bolla, M.K., Adank, M.A., Kiiski, J.I., Nevanlinna, H., team of authors (2021)
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial
Erratum: Author Correction: A case-only study to identify genetic modifiers of breast cancer risk for BRCA1/BRCA2 mutation carriers (Nature communications (2021) 12 1 (1078))
Coignard, J., Lush, M., Beesley, J., Andrieu, N., Antoniou, A.C., Fabienne Lesueur, Noura Mebirouk, Nadine Andrieu, Joe Dennis, Daniel R. Barnes, Lesley McGuffog, Goska Leslie, Manjeet K. Bolla, Daniel Barrowdale, Debra Frost, Paul D. P. Pharoah, Qin Wang, Douglas F. Easton, Antonis C. Antoniou, Irene L. Andrulis, Hoda Anton-Culver, Argyrios Ziogas, Jacques Simard, Volker Arndt, Hermann Brenner, Norbert Arnold, Jacopo Azzollini, Siranoush Manoukian, Bermisheva, Marina, Khusnutdinova, Elza, Blomqvist, Carl, Białkowska, Katarzyna, Jakubowska, Anna (2021)
Breast cancer (BC) risk for BRCA1 and BRCA2 mutation carriers varies by genetic and familial

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