Showing 1 - 20 results of 20 for search 'Ekaterina Zakharova', query time: 0.04s
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Genetic Variability of HUPRA Syndrome—A Case Report by Edita Petrosyan, Maria Molchanova, Berta Kushnir, Patritsia Povilaitite, Polina Tsygankova, Ekaterina Zakharova, Maria Proskura
Published 2023-04-01
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Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I by Tatyana Markova, Vladimir Kenis, Evgeniy Melchenko, Darya Osipova, Tatyana Nagornova, Anna Orlova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Published 2022-01-01
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Functional Analysis of the <i>PCCA</i> and <i>PCCB</i> Gene Variants Predicted to Affect Splicing by Igor Bychkov, Artur Galushkin, Alexandra Filatova, Andrey Nekrasov, Marina Kurkina, Galina Baydakova, Alexandra Ilyushkina, Mikhail Skoblov, Ekaterina Zakharova
Published 2021-04-01
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Does the c.-14C>T Mutation in the <i>IFITM5</i> Gene Provide Identical Phenotypes for Osteogenesis Imperfecta Type V? Data from Russia and a Literature Review by Anton Tyurin, Elena Merkuryeva, Aliya Zaripova, Tatyana Markova, Tatyana Nagornova, Ilya Dantsev, Dina Nadyrshina, Ekaterina Zakharova, Rita Khusainova
Published 2022-09-01
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Whole Transcriptome Analysis of Substantia Nigra in Mice with MPTP-Induced Parkinsonism Bearing Defective Glucocerebrosidase Activity by Tatiana Usenko, Anastasia Bezrukova, Margarita M. Rudenok, Katerina Basharova, Maria I. Shadrina, Petr A. Slominsky, Ekaterina Zakharova, Sofya Pchelina
Published 2023-07-01
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Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic <i>GBA</i> Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease by Tatiana Usenko, Anastasia Bezrukova, Katerina Basharova, Alexandra Panteleeva, Mikhail Nikolaev, Alena Kopytova, Irina Miliukhina, Anton Emelyanov, Ekaterina Zakharova, Sofya Pchelina
Published 2021-09-01
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Four Novel Disease-Causing Variants in the <i>NOTCH3</i> Gene in Russian Patients with CADASIL by Fatima Bostanova, Polina Tsygankova, Ilya Nagornov, Elena Dadali, Lyudmila Bessonova, Aleksey Kulesh, Viktor Drobakha, Irina Danchenko, Ilya Kanivets, Ekaterina Zakharova
Published 2023-08-01
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The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the G... by Tatiana S. Usenko, Alla Timofeeva, Mariia Beletskaia, Katerina Basharova, Galina Baydakova, Anastasia Bezrukova, Maria Grunina, Anton Emelyanov, Irina Miliukhina, Ekaterina Zakharova, Sofya Pchelina
Published 2024-01-01
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Generation of induced pluripotent stem cell line (RCMGi012-A) from fibroblasts of patient with mucopolysaccharidosis type VI by Ekaterina Kondrateva, Olga Grigorieva, Irina Panchuk, Igor Bychkov, Ekaterina Zakharova, Vyacheslav Tabakov, Victoria Pozhitnova, Ekaterina Voronina, Olga Shchagina, Alexander Lavrov, Svetlana Smirnikhina, Sergey Kutsev
Published 2023-12-01
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Expanding the genetic spectrum of the pyruvate carboxylase deficiency with novel missense, deep intronic and structural variants by Polina Tsygankova, Igor Bychkov, Marina Minzhenkova, Natalia Pechatnikova, Lyudmila Bessonova, Galina Buyanova, Irina Naumchik, Nikita Beskorovainiy, Vyacheslav Tabakov, Yulia Itkis, Nadezhda Shilova, Ekaterina Zakharova
Published 2022-09-01
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Clinical Characterization of Alagille Syndrome in Patients with Cholestatic Liver Disease by Natalia Semenova, Elena Kamenets, Eleonora Annenkova, Andrey Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharova
Published 2023-07-01
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Complex Transposon Insertion as a Novel Cause of Pompe Disease by Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Skoblov, Ekaterina Zakharova
Published 2021-10-01
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Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia by Denis Kistol, Polina Tsygankova, Tatiana Krylova, Igor Bychkov, Yulia Itkis, Ekaterina Nikolaeva, Svetlana Mikhailova, Maria Sumina, Natalia Pechatnikova, Sergey Kurbatov, Fatima Bostanova, Ochir Migiaev, Ekaterina Zakharova
Published 2023-01-01
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Clinical and Genetic Characteristics of Calvarial Doughnut Lesions with Bone Fragility in Three Families with a Reccurent <i>SGMS2</i> Gene Variant by Elena Merkuryeva, Tatiana Markova, Anton Tyurin, Diana Valeeva, Vladimir Kenis, Maria Sumina, Igor Sorokin, Olga Shchagina, Mikhail Skoblov, Maria Nefedova, Rita Khusainova, Ekaterina Zakharova, Elena Dadali, Sergey Kutsev
Published 2023-04-01
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Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases by Agnieszka Ługowska, Galina Baydakova, Alex Ilyushkina, Ekaterina Zakharova, Hanna Mierzewska, Krystyna Szymańska, Jolanta Wierzba, Jolanta Kubalska, Ałła Graban, Tomasz Kmieć, Barbara Perkowska-Sumiła, Anna Tylki-Szymańska, Małgorzata Bednarska-Makaruk
Published 2021-02-01
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Altered Sphingolipid Hydrolase Activities and Alpha-Synuclein Level in Late-Onset Schizophrenia by Tatiana Usenko, Anastasia Bezrukova, Katerina Basharova, Galina Baydakova, Elena Shagimardanova, Nataliya Blatt, Albert Rizvanov, Oleg Limankin, Maxim Novitskiy, Natalia Shnayder, Artem Izyumchenko, Mikhail Nikolaev, Anna Zabotina, Anna Lavrinova, Darya Kulabukhova, Regina Nasyrova, Ekaterina Palchikova, Natalia Zalutskaya, Irina Miliukhina, Yury Barbitoff, Oleg Glotov, Andrey Glotov, Anastasia Taraskina, Nikolai Neznanov, Ekaterina Zakharova, Sofya Pchelina
Published 2023-12-01
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