ClassifyCNV: a tool for clinical annotation of copy-number variants

por Gurbich, Tatiana A., Ilinsky, Valery Vladimirovich
Publicado 2020

Novel mutation in the MPZ gene causes early-onset but slow-progressive Charcot–Marie–Tooth disease in a Russian family: a case report

por Kozina, Anastasiya Aleksandrovna, Baryshnikova, Natalia Vladimirovna, Ilinskaya, Anna Yurievna, Kim, Anna Alexandrovna, Plotnikov, Nikolay Alekseevich, Pogodina, Nadezhda Andreevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Publicado 2022

A case of Joubert syndrome caused by novel compound heterozygous variants in the TMEM67 gene

por Kozina, Anastasiya Aleksandrovna, Kanaeva, Guria Kurbanovna, Baryshnikova, Natalia Vladimirovna, Ilinskaya, Anna Yurievna, Kim, Anna Alexandrovna, Erofeeva, Anastasia Vladimirovna, Pogodina, Nadezhda Andreevna, Gadzhiyeva, Jamilya Payzutdinova, Surkova, Ekaterina Ivanovna, Ilinsky, Valery Vladimirovich
Publicado 2023

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

por Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Krasnenko, Anna Yurievna, Tsukanov, Kirill Yurievich, Klimchuk, Olesya Igorevna, Kondakova, Olga Borisovna, Larionova, Anna Nikolaevna, Batysheva, Tatyana Timofeevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Publicado 2018

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report

por Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Fedonyuk, Inessa Dmitrievna, Kholin, Alexey Aleksandrovich, Il’ina, Elena Stepanovna, Krasnenko, Anna Yurievna, Stetsenko, Ivan Fedorovich, Plotnikov, Nikolay Alekseevich, Klimchuk, Olesia Igorevna, Surkova, Ekaterina Ivanovna, Ilinsky, Valery Vladimirovich
Publicado 2020