Allelic Dropout Is a Common Phenomenon That Reduces the Diagnostic Yield of PCR-Based Sequencing of Targeted Gene Panels

por Shestak, Anna G., Bukaeva, Anna A., Saber, Siamak, Zaklyazminskaya, Elena V.
Publicado 2021

Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy – a pilot study

por Zaklyazminskaya, Elena, Mikhailov, Vadim, Bukaeva, Anna, Kotlukova, Natalia, Povolotskaya, Inna, Kaimonov, Vladimir, Dombrovskaya, Anna, Dzemeshkevich, Sergey
Publicado 2019

A Case of Severe Left-Ventricular Noncompaction Associated with Splicing Altering Variant in the FHOD3 Gene

por Myasnikov, Roman, Bukaeva, Anna, Kulikova, Olga, Meshkov, Alexey, Kiseleva, Anna, Ershova, Alexandra, Petukhova, Anna, Divashuk, Mikhail, Zotova, Evgenia, Sotnikova, Evgeniia, Kharlap, Maria, Zharikova, Anastasia, Vyatkin, Yuri, Ramensky, Vasily, Abisheva, Alexandra, Muraveva, Alisa, Koretskiy, Sergey, Kudryavtseva, Maria, Popov, Sergey, Utkina, Marina, Mershina, Elena, Sinitsyn, Valentin, Kogan, Evgeniya, Blagova, Olga, Drapkina, Oxana
Publicado 2022

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia

por Meshkov, Alexey, Ershova, Alexandra, Kiseleva, Anna, Zotova, Evgenia, Sotnikova, Evgeniia, Petukhova, Anna, Zharikova, Anastasia, Malyshev, Pavel, Rozhkova, Tatyana, Blokhina, Anastasia, Limonova, Alena, Ramensky, Vasily, Divashuk, Mikhail, Khasanova, Zukhra, Bukaeva, Anna, Kurilova, Olga, Skirko, Olga, Pokrovskaya, Maria, Mikova, Valeriya, Snigir, Ekaterina, Akinshina, Alexsandra, Mitrofanov, Sergey, Kashtanova, Daria, Makarov, Valentin, Kukharchuk, Valeriy, Boytsov, Sergey, Yudin, Sergey, Drapkina, Oxana
Publicado 2021

A Splice Variant of the MYH7 Gene Is Causative in a Family with Isolated Left Ventricular Noncompaction Cardiomyopathy

por Myasnikov, Roman P., Kulikova, Olga V., Meshkov, Alexey N., Bukaeva, Anna A., Kiseleva, Anna V., Ershova, Alexandra I., Petukhova, Anna V., Divashuk, Mikhail G., Zotova, Evgenia D., Sotnikova, Evgeniia A., Abisheva, Alexandra A., Muraveva, Alisa V., Koretskiy, Sergey N., Popov, Sergey V., Utkina, Marina V., Snigir, Ekaterina A., Mitrofanov, Sergey I., Konureeva, Ksenia D., Mershina, Elena A., Sinitsyn, Valentin E., Yudin, Sergey M., Drapkina, Oxana M.
Publicado 2022