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Elizaveta Gurinova

Observed names: E. E. Gurinova, E.E. Gurinova, Elizaveta E Gurinova, Е.Е. Гуринова
Observed institution: North-Eastern Federal University
ORCID: 0000-0002-2370-6503
Observed ORCID: 0000-0002-2370-6503
OpenAlex ID: A5055101202
Mutation inVPS33Aaffects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms
2016 · Hidehito Kondo, Nadezda Maksimova, et al. · Human Molecular Genetics · 67
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome
2022 · Viktoriia Sofronova, Rina Iwata, et al. · International Journal of Molecular Sciences · 14
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Identification of a Novel Compound Heterozygous Variant in NBAS Causing Bone Fragility by the Type of Osteogenesis Imperfecta
2020 · D. A. Petukhova, E. E. Gurinova, et al. · Lecture notes in computer science · 7
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype
2023 · Leonid Zhozhikov, Aitalina Sukhomyasova, et al. · Clinical Genetics · 5
Treating a teenager with Morquio A syndrome (mucopolysaccharidosis IV A) with Vimizim
2021 · E. E. Gurinova, A. L. Sukhomyasova, et al. · Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) · 2
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A clinical follow-up of a 5-year old child with SOPH-syndrome
2021 · O.N. Ivanova, A.L. Sukhomyasova, et al. · Yakut Medical Journal · 2
The case of multiple osteohondromas in Yakut family (Eastern Siberia, Russia) caused by rare mutation in the EXT2 gene
2019 · А.Е. Яковлева, Д.А. Петухова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika» · 2
A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko’s Lines
2023 · Viktoriia Sofronova, Elizaveta Gurinova, et al. · International Journal of Molecular Sciences · 1
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A novel homozygous mutation causing hereditary tyrosinemia type I in yakut patient in russia: case report.
2016 · Nadezda R Maksimova, Elizaveta E Gurinova, et al. · PubMed · 1
A familial case of interstitial deletion of the short arm of chromosome 6p22.3-p24.3 in twins with severe delay in psychomotor and speech development
2025 · G. D. Moskvitin, D. B. Kochkina, et al. · Vavilov Journal of Genetics and Breeding
Ullrich congenital muscular dystrophy: clinical case study
2024 · P.I. Golikova, G.D. Moskvitin, et al. · Yakut Medical Journal
Mucopolysaccharidosis-Plus Syndrome
2023 · Nadezhda Maksimova, Elizaveta Gurinova, et al. · Springer eBooks
Clinical and molecular genetic description of a new type of mucopolysaccharidosis in Yakutia
2021 · С.Н. Новгородова, Е.Е. Гуринова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
Clinical and genetic description of neuronal ceroid lipofuscinosis 6 type in the yakut family
2021 · P.I. Golikova, D.A. Petukhova, et al. · S S Korsakov Journal of Neurology and Psychiatry
A novel compound heterozygous variant in NBAS causing bone fragility by the type of osteogenesis imperfecta
2020 · Д.А. Петухова, Е.Е. Гуринова, et al. · Nauchno-prakticheskii zhurnal «Medicinskaia genetika»
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Clinical case of propionic acidemia
2018 · S.N. Alekseeva, A.L. Sukhomyasova, et al. · Yakut Medical Journal
Dentatorubral-pallidoluysian atrophy in the selection of unidentified spinocebellar ataxies in Yakutia
2018 · M.A. Varlamova, I.A. Nikolaeva, et al. · Yakut Medical Journal
Семейный Случай Болезни Фабри
2017 · Р Иванова, А.Л. Сухомясова, et al. · CyberLeninK (CyberLeninka)
Синдром Элерса-Данлоса у ребенка 6 лет
2014 · Аргунова Елена Филипповна, О Н Иванова, et al. · Pacific Medical Journal
Наследственная Тирозинемия I Типа
2013 · Иванова Ольга Николаевна, Elizaveta Gurinova, et al. · Pacific Medical Journal
Молекулярно-генетическое обследование больных с нарушением полового развития
2011 · А. А. Слепцов, М. С. Назаренко, et al. · Сибирский медицинский журнал (Томск)
Works count: 21
Citation count: 101
H-index: 4
I10-index: 2
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