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

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

Ehlers-Danlos syndrome kyphoscoliotic type 2 caused by mutations in the FKBP14 gene: an analysis of five cases

por Semyachkina, Alla Nikolaevna, Nikolaeva, Ekaterina Alexandrovna, Galeeva, Nailya Mansurovna, Polyakov, Alexander Vladimirovich, Kurnikova, Maria Andreevna, Belova, Vera Аlexandrovna, Shulyakova, Irina Valerievna, Dantsev, Ilya Sergeevich, Dzhivanshiryan, Goar Vladimirovna
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