A novel mutation in the PEX26 gene in a family from Dagestan with members affected by Zellweger spectrum disorder

بواسطة Semenova, Natalia A., Kurkina, Marina V., Marakhonov, Andrey V., Dadali, Elena L., Taran, Natalia N., Strokova, Tatyana V.
الحاوية / القاعدة Mol Genet Metab Rep (2021)

A New Variant of Charcot-Marie-Tooth Disease Type 2 Is Probably the Result of a Mutation in the Neurofilament-Light Gene

بواسطة Mersiyanova, Irina V., Perepelov, Alexander V., Polyakov, Alexander V., Sitnikov, Vladimir F., Dadali, Elena L., Oparin, Roman B., Petrin, Alexander N., Evgrafov, Oleg V.
منشور في 2000

Ataxia with Oculomotor Apraxia Type 4 with PNKP Common “Portuguese” and Novel Mutations in Two Belarusian Families

بواسطة Rudenskaya, Galina E., Marakhonov, Andrey V., Shchagina, Olga A., Lozier, Ekaterina R., Dadali, Elena L., Akimova, Irina A., Petrova, Nika V., Konovalov, Fedor A.
الحاوية / القاعدة J Pediatr Genet (2019)

Primary microcephaly case from the Karachay-Cherkess Republic poses an additional support for microcephaly and Seckel syndrome spectrum disorders

بواسطة Marakhonov, Andrey V., Konovalov, Fedor A., Makaov, Amin Kh., Vasilyeva, Tatyana A., Kadyshev, Vitaly V., Galkina, Varvara A., Dadali, Elena L., Kutsev, Sergey I., Zinchenko, Rena A.
الحاوية / القاعدة BMC Med Genomics (2018)

Pathomechanisms of a CLCN1 Mutation Found in a Russian Family Suffering From Becker's Myotonia

بواسطة Altamura, Concetta, Ivanova, Evgeniya A., Imbrici, Paola, Conte, Elena, Camerino, Giulia Maria, Dadali, Elena L., Polyakov, Alexander V., Kurbatov, Sergei Aleksandrovich, Girolamo, Francesco, Carratù, Maria Rosaria, Desaphy, Jean-François
الحاوية / القاعدة Front Neurol (2020)

Genotype Phenotype Correlation and Variability in Microcephaly Associated With Chorioretinopathy or Familial Exudative Vitreoretinopathy

بواسطة Shurygina, Maria F., Simonett, Joseph M., Parker, Maria A., Mitchell, Amanda, Grigorian, Florin, Lifton, Jacob, Nagiel, Aaron, Shpak, Alexander A., Dadali, Elena L., Mishina, Irina A., Weleber, Richard G., Yang, Paul, Pennesi, Mark E.
الحاوية / القاعدة Invest Ophthalmol Vis Sci (2020)

Study of the genetic load and diversity of hereditary diseases in the Russian population of the Karachay-Cherkess Republic

بواسطة Zinchenko, Rena A, Kadyshev, Vitaly V, El’chinova, Galina I, Marakhonov, Andrey V, Galkina, Varvara A, Dadali, Elena L, Khlebnikova, Olga V, Mikhailova, Lyudmila K, Petrova, Nika V, Petrina, Nina E, Vasilyeva, Tatyana A, Gundorova, Polina, Tanas, Alexander S, Strelnikov, Vladimir V, Polyakov, Alexander V, Ginter, Eugeny K
الحاوية / القاعدة Int J Mol Epidemiol Genet (2018)

Epidemiology of Hereditary Diseases in the Karachay-Cherkess Republic

بواسطة Zinchenko, Rena A., Makaov, Amin Kh., Marakhonov, Andrey V., Galkina, Varvara A., Kadyshev, Vitaly V., El’chinova, Galina I., Dadali, Elena L., Mikhailova, Lyudmila K., Petrova, Nika V., Petrina, Nina E., Vasilyeva, Tatyana A., Gundorova, Polina, Polyakov, Alexander V., Alexandrova, Oksana Y., Kutsev, Sergey I., Ginter, Eugeny K.
الحاوية / القاعدة Int J Mol Sci (2020)