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A Case of Mucopolysaccharidosis II Caused by a Novel Variant with Skin Linear Hyperpigmented Streaks along Blaschko's Lines.
Published in:
International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5647, doi. 10.3390/ijms24065647
By:
- Sofronova, Viktoriia;
- Gurinova, Elizaveta;
- Petukhova, Diana;
- Fukamatsu, Hiroko;
- Yamamoto, Takenobu;
- Aoyama, Yumi;
- Golikova, Polina;
- Moskvitin, Gavril;
- Ivanova, Roza;
- Savvina, Mira;
- Vasilev, Filipp;
- Moriwaki, Takahito;
- Terawaki, Seigo;
- Sukhomyasova, Aitalina;
- Maksimova, Nadezhda;
- Otomo, Takanobu
Publication type:
Article
Hematopoietic Disorders, Renal Impairment and Growth in Mucopolysaccharidosis-Plus Syndrome.
Published in:
International Journal of Molecular Sciences, 2022, v. 23, n. 10, p. 5851, doi. 10.3390/ijms23105851
By:
- Sofronova, Viktoriia;
- Iwata, Rina;
- Moriya, Takuya;
- Loskutova, Kiunniai;
- Gurinova, Elizaveta;
- Chernova, Mairanush;
- Timofeeva, Anastasia;
- Shvedova, Anna;
- Vasilev, Filipp;
- Novgorodova, Saina;
- Terawaki, Seigo;
- Moriwaki, Takahito;
- Sukhomyasova, Aitalina;
- Maksimova, Nadezhda;
- Otomo, Takanobu
Publication type:
Article
Mucopolysaccharidosis-Plus Syndrome.
Published in:
International Journal of Molecular Sciences, 2020, v. 21, n. 2, p. 1, doi. 10.3390/ijms21020421
By:
- Vasilev, Filipp;
- Aitalina Sukhomyasova;
- Takanobu Otomo
Publication type:
Article
A novel homozygous mutation causing hereditary tyrosinemia type I in Yakut patient in Russia: Case report.
Published in:
Wiadomości Lekarskie, 2016, v. 69, n. 2, Part 2, p. 295
By:
- Maksimova, Nadezda R.;
- Gurinova, Elizaveta E.;
- Sukhomyasova, Aitalina L.;
- Danilova, Anastasia L.;
- Kaimonov, Vladimir S.;
- Savvina, Mira T.;
- Yakovleva, Aleksandra E.;
- Alekseeva, Elena I.
Publication type:
Article
A novel homozygous mutation causing hereditary tyrosinemia type I in Yakut patient in Russia: Case report.
Published in:
Wiadomości Lekarskie, 2016, v. 69, n. 2, Part 1, p. 295
By:
- Maksimova, Nadezda R.;
- Gurinova, Elizaveta E.;
- Sukhomyasova, Aitalina L.;
- Danilova, Anastasia L.;
- Kaimonov, Vladimir S.;
- Savvina, Mira T.;
- Yakovleva, Aleksandra E.;
- Alekseeva, Elena I.
Publication type:
Article
Origins of SOPH syndrome: A study of 93 Yakut patients with review of C‐terminal phenotype.
Published in:
Clinical Genetics, 2023, v. 103, n. 6, p. 625, doi. 10.1111/cge.14319
By:
- Zhozhikov, Leonid;
- Sukhomyasova, Aitalina;
- Gurinova, Elizaveta;
- Nogovicina, Anna;
- Vasilev, Filipp;
- Maksimova, Nadezhda
Publication type:
Article
Mutation in VPS33A affects metabolism of glycosaminoglycans: a new type of mucopolysaccharidosis with severe systemic symptoms.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 1, p. 173, doi. 10.1093/hmg/ddw377
By:
- Hidehito Kondo;
- Nadezda Maksimova;
- Takanobu Otomo;
- Hisakazu Kato;
- Atsuko Imai;
- Yoshihiro Asano;
- Kaori Kobayashi;
- Satoshi Nojima;
- Akihiro Nakaya;
- Yusuke Hamada;
- Kaori Irahara;
- Gurinova, Elizaveta;
- Sukhomyasova, Aitalina;
- Nogovicina, Anna;
- Savvina, Mira;
- Tamotsu Yoshimori;
- Keiichi Ozono;
- Norio Sakai
Publication type:
Article
Prenatal Diagnosis of Mucopolysaccharidosis-Plus Syndrome (MPSPS).
Published in:
Genes, 2023, v. 14, n. 8, p. 1581, doi. 10.3390/genes14081581
By:
- Sofronova, Viktoriia;
- Gotovtseva, Lyutsiya;
- Danilova, Anastasia;
- Sukhomyasova, Aitalina;
- Moriwaki, Takahito;
- Terawaki, Seigo;
- Otomo, Takanobu;
- Maksimova, Nadezhda
Publication type:
Article
Pilot Screening of Cell-Free mtDNA in NIPT: Quality Control, Variant Calling, and Haplogroup Determination.
Published in:
Genes, 2021, v. 12, n. 5, p. 743, doi. 10.3390/genes12050743
By:
- Morshneva, Alisa;
- Kozyulina, Polina;
- Vashukova, Elena;
- Tarasenko, Olga;
- Dvoynova, Natalia;
- Chentsova, Anastasia;
- Talantova, Olga;
- Koroteev, Alexander;
- Ivanov, Dmitrii;
- Serebryakova, Elena;
- Ivashchenko, Tatyana;
- Sukhomyasova, Aitalina;
- Maksimova, Nadezhda;
- Bespalova, Olesya;
- Kogan, Igor;
- Baranov, Vladislav;
- Glotov, Andrey;
- Tomaiuolo, Rossella;
- Cinelli, Paolo
Publication type:
Article
Structural Variability, Expression Profile, and Pharmacogenetic Properties of TMPRSS2 Gene as a Potential Target for COVID-19 Therapy.
Published in:
Genes, 2021, v. 12, n. 1, p. 19, doi. 10.3390/genes12010019
By:
- Zarubin, Aleksei;
- Stepanov, Vadim;
- Markov, Anton;
- Kolesnikov, Nikita;
- Marusin, Andrey;
- Khitrinskaya, Irina;
- Swarovskaya, Maria;
- Litvinov, Sergey;
- Ekomasova, Natalia;
- Dzhaubermezov, Murat;
- Maksimova, Nadezhda;
- Sukhomyasova, Aitalina;
- Shtygasheva, Olga;
- Khusnutdinova, Elza;
- Radzhabov, Magomed;
- Kharkov, Vladimir
Publication type:
Article

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