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Elena V. Saifullina

Observed names: E Saifullina, E. Saifullina, E. V. Saifullina, E. V. Sayfullina, E.V. Saifullina, Elena Saifulliina, Elena Saifullina, Е. В. Сайфуллина
ORCID: 0000-0001-9552-8948
Observed ORCID: 0000-0001-9552-8948
OpenAlex ID: A5033205214
Newborn Screening for Severe T and B Cell Lymphopenia Using TREC/KREC Detection: A Large-Scale Pilot Study of 202,908 Newborns
2024 · Andrey V. Marakhonov, Irina Yu. Efimova, et al. · Journal of Clinical Immunology · 27
Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene
2020 · Marina V. Kurkina, Svetlana V. Mihaylova, et al. · Metabolic Brain Disease · 26
Epidemiology of Spinal Muscular Atrophy Based on the Results of a Large-Scale Pilot Project on 202,908 Newborns
2024 · Irina Yu. Efimova, Rena A. Zinchenko, et al. · Pediatric Neurology · 12
Pattern of TSC1 and TSC2 germline mutations in Russian patients with tuberous sclerosis
2018 · Evgeny N. Suspitsin, Grigoriy A. Yanus, et al. · Journal of Human Genetics · 12
MFN2Gene Analysis in Patients with Hereditary Motor and Sensory Neuropathy from Bashkortostan Republic
2013 · I. M. Khidiyatova, I. A. Skachkova, et al. · Генетика · 7
Decreased TREC and KREC levels in newborns with trisomy 21
2024 · Andrey Marakhonov, Anna Mukhina, et al. · Frontiers in Pediatrics · 6
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Pompe disease: a country-wide molecular screening in a cohort of 15,068 study participants
2026 · Aleksander Pushkov, Daria Chudakova, et al. · Frontiers in Molecular Biosciences · 4
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Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G>A mtDNA Substitution: A Heteroplasmy Perspective
2025 · Tatiana Krylova, Yulia Itkis, et al. · International Journal of Molecular Sciences · 4
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Major Mutation in the SPAST Gene in Patients with Autosomal Dominant Spastic Paraplegia from the Republic of Bashkortostan
2019 · I. M. Khidiyatova, A. F. Akhmetgaleyeva, et al. · Russian Journal of Genetics · 3
L-2-hydroxyglutaric aciduria caused by a new mutation in the L2HGDH gene
2017 · E. V. Saifullina, E. Yu. Zakharova, et al. · S S Korsakov Journal of Neurology and Psychiatry · 3
Two novel mutations in gene SPG4 in patients with autosomal dominant spastic paraplegia
2016 · A. F. Akhmetgaleyeva, I. M. Khidiyatova, et al. · Russian Journal of Genetics · 3
Две новые мутации в генеSPG4у пациентов с аутосомно-доминантной спастической параплегией
2016 · А. Ф. Ахметгалеева, И. М. Хидиятова, et al. · Генетика · 3
Experience with nusinersen as a pathogenetic therapy in adult patients with spinal muscular atrophy 5q in the Republic of Bashkortostan
2023 · S. V. Umutbaev, L. Sh. Murzabaeva, et al. · Neuromuscular Diseases · 2
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MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic
2013 · I. M. Khidiyatova, I. A. Skachkova, et al. · Russian Journal of Genetics · 2
Results of a prospective observational study of imiglucerase biosimilar in adults with type I Gaucher disease
2025 · Elena A. Lukina, Rodion V. Ponomarev, et al. · Terapevticheskii arkhiv · 1
The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin
2024 · Dmitrii Subbotin, Sofya Ionova, et al. · Frontiers in Genetics · 1
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Rare Variants of the SMN1 Gene Detected during Neonatal Screening
2024 · Maria Akhkiamova, Aleksander Polyakov, et al. · Genes · 1
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Hereditary spastic paraplegias
2024 · R. F. Kutlubaeva, M. A. Kutlubaev, et al. · Neuromuscular Diseases · 1
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Analysis of ATL1 Gene Mutations and Clinical Features of the Disease Course in Patients with Hereditary Spastic Paraplegia
2022 · I. M. Khidiyatova, E. V. Saifullina, et al. · Russian Journal of Genetics · 1
Two clinical cases of glutaric aciduria type I in the Republic of Bashkortostan
2020 · Elena V. Saifullina, Rim V. Magzhanov, et al. · Annals of Clinical and Experimental Neurology · 1
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Мажорная мутация в гене SPAST у пациентов с аутосомно-доминантной спастической параплегией из Республики Башкортостан
2019 · И. М. Хидиятова, А. Ф. Ахметгалеева, et al. · Генетика · 1
M06 Epidemiology of Huntington's disease in the Republic of Bashkortostan
2012 · R Magzhanov, E Saifullina, et al. · Journal of Neurology Neurosurgery & Psychiatry · 1
Hypogonadotropic hypogonadism due to pathogenic variants in the POLR3B gene
2026 · O. A. Malievskiy, R. I. Malievskaya, et al. · Problems of Endocrinology
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Pathogenetic therapy for Duchenne muscular dystrophy: Russian experience with viltolarsen
2026 · D. V. Vlodavets, S. B. Artemyeva, et al. · Russian Journal of Child Neurology
Сейпинопатии: клинические варианты наследственной моторно-сенсорной нейропатии и спастической параплегии, обусловленные мутациями в гене BSCL2, у пациентов из Волго-Уральского региона
2025 · Irina M. Khidiyatova, Elena V. Saifullina, et al. · RESEARCH RESULTS IN BIOMEDICINE
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Works count: 40
Citation count: 122
H-index: 6
I10-index: 4
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