Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome
Zhalsanova, Irina Zh, Ravzhaeva, Ekatherina G, Postrigan, Anna E, Seitova, Gulnara N, Zhigalina, Daria I, Udalova, Vasilisa Yu, Danina, Maryana M, Kanivets, Ilya V, Skryabin, Nikolay A
Published in International journal of molecular sciences (13.09.2022)
Published in International journal of molecular sciences (13.09.2022)
Get full text
Journal Article
Genetic and Clinical Spectrum of GNE Myopathy in Russia
Murtazina, Aysylu, Nikitin, Sergey, Rudenskaya, Galina, Sharkova, Inna, Borovikov, Artem, Sparber, Peter, Shchagina, Olga, Chukhrova, Alena, Ryzhkova, Oksana, Shatokhina, Olga, Orlova, Anna, Udalova, Vasilisa, Kanivets, Ilya, Korostelev, Sergey, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey
Published in Genes (31.10.2022)
Published in Genes (31.10.2022)
Get full text
Journal Article
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
Miroshnikova, Valentina V, Vasiluev, Petr A, Linkova, Svetlana V, Soloviov, Vladislav M, Ivanova, Olga N, Tolmacheva, Ekaterina R, Udalova, Vasilisa Y, Baranova, Polina V, Aleksandrova, Darya Y, Strokova, Tatiana V, Miklashevich, Irina M, Izumchenko, Artem D, Dracheva, Kseniia V, Grunina, Maria N, Smirnova, Nataliya N, Kuchina, Anna S, Zakharova, Ekaterina Y, Pchelina, Sofya N
Published in Journal of personalized medicine (01.10.2023)
Published in Journal of personalized medicine (01.10.2023)
Get full text
Journal Article
Genetic spectrum of sarcoglycanopathies in a cohort of Russian patients
Bulakh, Maria, Polyakova, Daria, Dadali, Elena, Rudenskaya, Galina, Sharkova, Inna, Markova, Tatiana, Murtazina, Aysylu, Demina, Nina, Kurbatov, Sergei, Nikitina, Natalia, Udalova, Vasilisa, Polyakov, Aleksander, Ryzhkova, Oxana
Published in Gene (15.11.2024)
Published in Gene (15.11.2024)
Get full text
Journal Article
The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study
Borovikov, Artem, Galeeva, Nailya, Marakhonov, Andrey, Murtazina, Aysylu, Kadnikova, Varvara, Davydenko, Kseniya, Orlova, Anna, Sparber, Peter, Markova, Tatiana, Orlova, Maria, Osipova, Darya, Nagornova, Tatyana, Semenova, Natalia, Levchenko, Olga, Filatova, Alexandra, Sharova, Margarita, Vasiluev, Peter, Kanivets, Ilya, Pyankov, Denis, Sharkov, Artem, Udalova, Vasilisa, Kenis, Vladimir, Nikitina, Natalia, Sumina, Maria, Zherdev, Konstantin, Petel'guzov, Aleksandr, Chelpachenko, Oleg, Zubkov, Pavel, Dan, Ivan, Snetkov, Andrey, Akinshina, Alexandra, Buklemishev, Yury, Ryzhkova, Oxana, Tabakov, Vyacheslav, Zakharova, Ekaterina, Korostelev, Sergey, Zinchenko, Rena, Skoblov, Mikhail, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey, Shchagina, Olga
Published in Human mutation (12.02.2024)
Published in Human mutation (12.02.2024)
Get full text
Journal Article
Case Report: Compound Heterozygous Variants of the MAN1B1 Gene in a Russian Patient with Rafiq Syndrome
Zhalsanova, Irina Zh, Ravzhaeva, Ekatherina G, Postrigan, Anna E, Seitova, Gulnara N, Zhigalina, Daria I, Udalova, Vasilisa Yu, Danina, Maryana M, Kanivets, Ilya V, Skryabin, Nikolay A
Published in International journal of molecular sciences (13.09.2022)
Published in International journal of molecular sciences (13.09.2022)
Get full text
Report
Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice
Miroshnikova, Valentina V, Vasiluev, Petr A, Linkova, Svetlana V, Soloviov, Vladislav M, Ivanova, Olga N, Tolmacheva, Ekaterina R, Udalova, Vasilisa Y, Baranova, Polina V, Aleksandrova, Darya Y, Strokova, Tatiana V, Miklashevich, Irina M, Izumchenko, Artem D, Dracheva, Kseniia V, Grunina, Maria N, Smirnova, Nataliya N, Kuchina, Anna S, Zakharova, Ekaterina Y, Pchelina, Sofya N
Published in Journal of personalized medicine (14.10.2023)
Published in Journal of personalized medicine (14.10.2023)
Get full text
Report