Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers
Kozina, Anastasiya A., Okuneva, Elena G., Baryshnikova, Natalia V., Kondakova, Olga B., Nikolaeva, Ekaterina A., Fedoniuk, Inessa D., Mikhailova, Svetlana V., Krasnenko, Anna Y., Stetsenko, Ivan F., Plotnikov, Nikolay A., Klimchuk, Olesia I., Popov, Yaroslav V., Surkova, Ekaterina I., Shatalov, Peter A., Rakitko, Alexander S., Ilinsky, Valery V.
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
Get full text
Journal Article
Magnetic resonance imaging for diagnosing a rare disease: incontinentia pigmenti (Bloch–Sulzberger syndrome) on the example of a clinical case
Yarmola, Igor I., Anikin, Anatoly V., Gankin, Dmitry A., Fomina, Lyubov E., Kharitonova, Natalia A., Zhanin, Ilya S., Pushkov, Aleksandr A., Basargina, Milana A., Kondakova, Olga B.
Published in Digital diagnostics (26.09.2023)
Published in Digital diagnostics (26.09.2023)
Get full text
Journal Article