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Maria Ampleeva

Observed names: M. A. Ampleeva, М. А. Амплеева
ORCID: 0000-0003-2185-4753
Observed ORCID: 0000-0003-2185-4753
OpenAlex ID: A5037376432
Complex Transposon Insertion as a Novel Cause of Pompe Disease
2021 · Igor Bychkov, Galina Baydakova, et al. · International Journal of Molecular Sciences · 18
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Hyperammonemia in Russia Due to Carbonic Anhydrase VA Deficiency Caused by Homozygous Mutation p.Lys185Lys (c.555G>A) of the CA5A Gene
2022 · Natalia Semenova, Andrey Marakhonov, et al. · International Journal of Molecular Sciences · 7
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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene
2022 · Margarita Sharova, Mikhail Skoblov, et al. · Frontiers in Neurology · 6
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First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia
2026 · Andrey Marakhonov, Anna Mukhina, et al. · Frontiers in Immunology · 4
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Missense variants in TUBA4A cause myo-tubulinopathies
2026 · Mridul Johari, Chiara Folland, et al. · Brain · 3
Epidemiologic, clinical and pathogenesis features of achromatopsia in the Russian population
2020 · M. E. Ivanova, I. V. Zolnikova, et al. · Russian Ophthalmological Journal · 3
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Ataxia-telangiectasia with rare phenotype and unusual pedigree
2019 · G. E. Rudenskaya, O. A. Shchagina, et al. · S S Korsakov Journal of Neurology and Psychiatry · 3
Variable clinical presentation of split hand/foot malformation syndrome in a family with microduplication of 10q24.32: a case report
2024 · Daria Akimova, Tatiana Markova, et al. · Frontiers in Genetics · 2
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A Novel Homozygous Variant in the COMP Gene Causing a Multiple Epiphyseal Dysplasia 1 with Autosomal Recessive Inheritance
2022 · Tatiana Markova, Aysylu Murtazina, et al. · International Journal of Translational Medicine · 1
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Clinical and genetic characteristics of patients with type 2 early infantile epileptic encephalopathy caused by CDKL5 gene mutations
2020 · E. L. Dadali, I. A. Akimova, et al. · Russian Journal of Child Neurology · 1
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Gonadectomy prevents vascular remodeling in male Wistar rats at an early stage of hypoxic pulmonary hypertension
2010 · Olga Kudryavtseva, Maria Ampleeva, et al. · Acta Physiologica Scandinavica
Works count: 12
Citation count: 48
H-index: 4
I10-index: 1
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