Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Olesia Igorevna Klimchuk"'
Autor:
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Inessa Dmitrievna Fedonyuk, Alexey Aleksandrovich Kholin, Elena Stepanovna Il’ina, Anna Yurievna Krasnenko, Ivan Fedorovich Stetsenko, Nikolay Alekseevich Plotnikov, Olesia Igorevna Klimchuk, Ekaterina Ivanovna Surkova, Valery Vladimirovich Ilinsky
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Abstract Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heter
Externí odkaz:
https://doaj.org/article/e0501934cf2640a1bfa785a5bdafcdc1
Autor:
I. D. Fedonyuk, I. F. Stetsenko, V V Ilinsky, E. I. Surkova, Elena Grigorievna Okuneva, A. A. Kholin, Nikolay Plotnikov, Olesia Igorevna Klimchuk, Natalia Vladimirovna Baryshnikova, Anna Krasnenko, Anastasiya Aleksandrovna Kozina, E S Il'ina
Publikováno v:
BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-7 (2020)
Background Epilepsy with intellectual disability limited to females (Epileptic encephalopathy, early infantile, 9; EIEE9) is a rare early infantile epileptic encephalopathy characterized by an unusual X-linked inheritance: females with heterozygous m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d15f916bd54d5a16ae162e510fdb865a
https://doi.org/10.1186/s12881-020-01119-6
https://doi.org/10.1186/s12881-020-01119-6
Autor:
I. F. Stetsenko, Olesia Igorevna Klimchuk, P. A. Shatalov, E.A. Nikolaeva, Yaroslav V. Popov, Anna Krasnenko, E. I. Surkova, V V Ilinsky, Natalia Vladimirovna Baryshnikova, Alexander Rakitko, Olga Borisovna Kondakova, Elena Grigorievna Okuneva, Svetlana V. Mikhailova, Inessa D. Fedoniuk, Nikolay Plotnikov, Anastasiya Aleksandrovna Kozina
Publikováno v:
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Molecular Genetics & Genomic Medicine, Vol 8, Iss 7, Pp n/a-n/a (2020)
Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues. NCLs are associated with variable age of onset and progressive symptoms including seizur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9990be01aeab148ee1456aabcfab272
https://doi.org/10.1002/mgg3.1228
https://doi.org/10.1002/mgg3.1228