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BH4-deficient hyperphenylalaninemia in Russia

PloS one, 2021-04, Vol.16 (4), p.e0249608-e0249608

2021

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New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants

International journal of molecular sciences, 2024-05, Vol.25 (10), p.5127

2024

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The Study of Crystals in the Fruits of Some Apiaceae Species Using Energy-Dispersive Spectroscopy

International Journal of Plant Biology, 2023-06, Vol.14 (2), p.347-360

2023

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Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease

International journal of molecular sciences, 2023-02, Vol.24 (5), p.4437

2023

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Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1

The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3546-3556

2017

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Exploring the Etymological Sources of the Place Name Knyazhaya guba

Voprosy onomastiki, 2023-01, Vol.20 (3), p.49-62

2023

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Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

International journal of molecular sciences, 2022-09, Vol.23 (19), p.11424

2022

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Dose-Dependent Alterations of Lysosomal Activity and Alpha-Synuclein in Peripheral Blood Monocyte-Derived Macrophages and SH-SY5Y Neuroblastoma Cell Line by upon Inhibition of MTOR Protein Kinase – Assessment of the Prospects of Parkinson’s Disease Therapy

Biochemistry (Moscow), 2024-07, Vol.89 (7), p.1300-1312

2024

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Oikonyms of Karelia as an Object for Lexicographic Description: An Experience of Working on the Dictionary of Ludic Karelian Settlement Names

Voprosy leksikografii, 2021-12 (22), p.86-106

2021

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Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

International journal of molecular sciences, 2023-01, Vol.24 (2), p.1597

2023

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Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Orphanet journal of rare diseases, 2019-02, Vol.14 (1), p.55-55, Article 55

2019

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Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations?

Movement disorders, 2022-08, Vol.37 (8), p.1779-1781

2022

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Most important carpological anatomical characters in the taxonomy of Apiaceae

Botanical journal of the Linnean Society, 2021-03, Vol.195 (3), p.532-544

2021

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Complex Transposon Insertion as a Novel Cause of Pompe Disease

International journal of molecular sciences, 2021-10, Vol.22 (19), p.10887

2021

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Development of a geographic information system for toponyms of Karelia: historical and cultural aspect

Finno-ugorskij mir, 2022-12, Vol.14 (4), p.463-473

Zakharova, Ekaterina V.

2022

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Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI

Stem cell research, 2023-12, Vol.73, p.103259-103259, Article 103259

2023

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Caspase-like proteases and the phytohormone cytokinin as determinants of S-RNAse–based self-incompatibility–induced PCD in Petunia hybrida L

Protoplasma, 2021-05, Vol.258 (3), p.573-586

2021

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Crossings as Key Elements of Land Routes (Based on Geographical Vocabulary and Toponymy of Karelia)

Voprosy onomastiki, 2019-01, Vol.16 (2), p.145-167

Zakharova, Ekaterina V.

2019

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Hormonal Signaling in the Progamic Phase of Fertilization in Plants

Horticulturae, 2022-05, Vol.8 (5), p.365

2022

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Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity

International journal of molecular sciences, 2023-07, Vol.24 (15), p.12164

2023

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Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders

Journal of inherited metabolic disease, 2019-09, Vol.42 (5), p.918-933

2019

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The Role of Reactive Oxygen Species in the In Vitro Germination and Growth of the Petunia (Petunia hybrida E. Vilm.) Male Gametophyte

Horticulturae, 2023-12, Vol.9 (12), p.1326

2023

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Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

International journal of molecular sciences, 2023-04, Vol.24 (9), p.8021

2023

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Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

International journal of molecular sciences, 2023-07, Vol.24 (14), p.11758

2023

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Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients

Journal of pediatric gastroenterology and nutrition, 2018-10, Vol.67 (4), p.452-457

2018

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BH4-deficient hyperphenylalaninemia in Russia

New Case of Spinocerebellar Ataxia, Autosomal Recessive 4, Due to VPS13D Variants

The Study of Crystals in the Fruits of Some Apiaceae Species Using Energy-Dispersive Spectroscopy

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1

Exploring the Etymological Sources of the Place Name Knyazhaya guba

Mucopolysaccharidosis-Plus Syndrome: Report on a Polish Patient with a Novel VPS33A Variant with Comparison with Other Described Patients

Dose-Dependent Alterations of Lysosomal Activity and Alpha-Synuclein in Peripheral Blood Monocyte-Derived Macrophages and SH-SY5Y Neuroblastoma Cell Line by upon Inhibition of MTOR Protein Kinase – Assessment of the Prospects of Parkinson’s Disease Therapy

Oikonyms of Karelia as an Object for Lexicographic Description: An Experience of Working on the Dictionary of Ludic Karelian Settlement Names

Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia

Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up

Could Blood Hexosylsphingosine Be a Marker for Parkinson's Disease Linked with GBA1 Mutations?

Most important carpological anatomical characters in the taxonomy of Apiaceae

Complex Transposon Insertion as a Novel Cause of Pompe Disease

Development of a geographic information system for toponyms of Karelia: historical and cultural aspect

Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI

Caspase-like proteases and the phytohormone cytokinin as determinants of S-RNAse–based self-incompatibility–induced PCD in Petunia hybrida L

Crossings as Key Elements of Land Routes (Based on Geographical Vocabulary and Toponymy of Karelia)

Hormonal Signaling in the Progamic Phase of Fertilization in Plants

Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity

Plasma FGF‐21 and GDF‐15 are elevated in different inherited metabolic diseases and are not diagnostic for mitochondrial disorders

The Role of Reactive Oxygen Species in the In Vitro Germination and Growth of the Petunia (Petunia hybrida E. Vilm.) Male Gametophyte

Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent SGMS2 Gene Variant

Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease

Diagnostic Algorithm for Cholesteryl Ester Storage Disease: Clinical Presentation in 19 Polish Patients

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