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По вашему запросу найдено документов: 34

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Dissecting and analyzing the Subclonal Mutations Associated with Poor Prognosis in Diffuse Glioma

Bai, Ming, Wang, Xiaolong, Zhang, Huixue, Wang, Jianjian, Lyaysan, Gaysina, Xu, Si, Tian, Kuo, Wang, Tianfeng, Li, Jie, Wang, Na, Lu, Xiaoyu, Zhang, Xiaoming, Wang, Lihua (2022)

, we first performed an integrative framework to infer the clonal status of mutations in glioblastomas

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

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

Prospects for the treatment of neurofibromatosis type 1: A review

Mustafin, R.N., Мустафин, Р.Н. (2022)

mutations in NF1 gene. Protein product of NF1 is a neurofibromin, which inhibits RAS-RAF-MEK-ERK system

SIGNALING PATHWAYS AND THERAPEUTIC APPROACHES IN GLIOBLASTOMA MULTIFORME (REVIEW)

KHABIBOV, M., GARIFULLIN, A., KHAMITOV, F., KHALIKOVA, L., BOUMBER, Y., KHADDOUR, K., FERNANDEZ, M., KUZNETSOVA, N., KIT, O., KHARIN, L. (2022)

mutations

Clinical Masks of Neurofibromatosis Type 1

Mustafin, R.N., Мустафин, Р.Н. (2022)

mutations

Герминальные мутации как возможные биомаркеры эффективности терапии ингибиторами контрольных точек иммунитета у пациентов с почечно-клеточной карциномой (мини-обзор)

Germline mutations as possible biomarkers of immune checkpoint inhibitor therapy efficacy in patients with renal cell carcinoma (mini review)

Germline mutations as possible biomarkers of immune checkpoint inhibitor therapy efficacy

ATYPICAL CLINICAL MANIFESTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS OF NEUROFIBROMATOSIS TYPE 1

Мустафин, Р.Н., Mustafin, R.N. (2022)

by specific mutations in the NF1 gene (causing substitutions of amino acids in neurofibromin: p.Arg1038, p

Изменения иммунной системы в патогенезе нейрофиброматоза 1-го типа

Immune system changes in the pathogenesis of neurofibromatosis type 1

Mustafin, R.N., Мустафин, Р.Н. (2022)

of the population. NF1 is caused by germline heterozygous mutations in the NF1 gene, which encodes

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