Clinical and genetic characterization of autosomal recessive stickler syndrome caused by novel compound heterozygous mutations in the COL9A3 gene

por Markova, Tatiana, Sparber, Peter, Borovikov, Artem, Nagornova, Tatiana, Dadali, Elena
Publicado 2021

Spectrum of Genes for Non-GJB2-Related Non-Syndromic Hearing Loss in the Russian Population Revealed by a Targeted Deafness Gene Panel

por Shatokhina, Olga, Galeeva, Nailya, Stepanova, Anna, Markova, Tatiana, Lalayants, Maria, Alekseeva, Natalia, Tavarkiladze, George, Markova, Tatiana, Bessonova, Liudmila, Petukhova, Marina, Guseva, Daria, Anisimova, Inga, Polyakov, Alexander, Ryzhkova, Oxana, Bliznetz, Elena
Publicado 2022

Palmoplantar Keratoderma: A Molecular Genetic Analysis of Family Cases

por Shchagina, Olga, Fedotov, Valeriy, Markova, Tatiana, Shatokhina, Olga, Ryzhkova, Oksana, Fedotova, Tatiana, Polyakov, Aleksander
Publicado 2022

Clinical and genetic characterization of three Russian patients with pycnodysostosis due to pathogenic variants in the CTSK gene

por Markova, Tatiana Vladimirovna, Kenis, Vladimir, Melchenko, Evgeniy, Guseva, Darya, Osipova, Darya, Galeeva, Nailya, Nagornova, Tatiana, Dadali, Elena Leonidovna
Publicado 2022

Clinical and Genetic Characteristics of Multiple Epiphyseal Dysplasia Type 4

por Markova, Tatiana, Kenis, Vladimir, Melchenko, Evgenii, Alieva, Aynur, Nagornova, Tatiana, Orlova, Anna, Ogorodova, Natalya, Shchagina, Olga, Polyakov, Alexander, Dadali, Elena, Kutsev, Sergey
Publicado 2022

Audiological Evidence of Frequent Hereditary Mild, Moderate and Moderate-to-Severe Hearing Loss

por Markova, Tatiana, Alekseeva, Natalia, Lalayants, Maria, Ryzhkova, Oxana, Shatokhina, Olga, Galeeva, Nailya, Bliznetz, Elena, Belov, Oleg, Chibisova, Svetlana, Polyakov, Alexander, Tavartkiladze, George
Publicado 2022

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

por Merkuryeva, Elena, Markova, Tatiana, Tyurin, Anton, Valeeva, Diana, Kenis, Vladimir, Sumina, Maria, Sorokin, Igor, Shchagina, Olga, Skoblov, Mikhail, Nefedova, Maria, Khusainova, Rita, Zakharova, Ekaterina, Dadali, Elena, Kutsev, Sergey
Publicado 2023

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

por Levchenko, Olga, Dadali, Elena, Bessonova, Ludmila, Demina, Nina, Rudenskaya, Galina, Matyushchenko, Galina, Markova, Tatiana, Anisimova, Inga, Semenova, Natalia, Shchagina, Olga, Ryzhkova, Oxana, Zinchenko, Rena, Galkina, Varvara, Voinova, Victoria, Nagieva, Sabina, Lavrov, Alexander
Publicado 2022

Update of the GJB2/DFNB1 mutation spectrum in Russia: a founder Ingush mutation del(GJB2-D13S175) is the most frequent among other large deletions

por Bliznetz, Elena A, Lalayants, Maria R, Markova, Tatiana G, Balanovsky, Oleg P, Balanovska, Elena V, Skhalyakho, Roza A, Pocheshkhova, Elvira A, Nikitina, Natalya V, Voronin, Sergey V, Kudryashova, Elena K, Glotov, Oleg S, Polyakov, Alexander V
Publicado 2017