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1دورية أكاديمية
المؤلفون: Daria Akimova, Tatiana Markova, Maria Ampleeva, Mikhail Skoblov
المصدر: Frontiers in Genetics, Vol 14 (2024)
مصطلحات موضوعية: split hand/foot malformation, whole genome sequencing, mosaicism, pathogenic duplications, ectrodactyly, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Tatiana Markova, Aysylu Murtazina, Vladimir Kenis, Evgenii Melchenko, Maria Ampleeva, Tatiana Nagornova, Aynur Alieva, Elena Dadali, Sergey Kutsev
المصدر: International Journal of Translational Medicine, Vol 2, Iss 2, Pp 210-219 (2022)
مصطلحات موضوعية: COMP, multiple epiphyseal dysplasia, myopathy, Computer applications to medicine. Medical informatics, R858-859.7
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
المصدر: Frontiers in Neurology, Vol 13 (2022)
مصطلحات موضوعية: MICU1, myopathy with extrapyramidal signs, RNA analysis, molecular mechanism of inherited disease, mitochondrial Ca2+ complex, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Natalia Semenova, Andrey Marakhonov, Maria Ampleeva, Marina Kurkina, Galina Baydakova, Mikhail Skoblov, Natalia Taran, Olga Babak, Ekaterina Shchukina, Tatyana Strokova
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 23, p 15026 (2022)
مصطلحات موضوعية: carbonic anhydrase VA deficiency, CA5A gene, hyperammonemia, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Skoblov, Ekaterina Zakharova
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 19, p 10887 (2021)
مصطلحات موضوعية: SVA, L1, transposable elements, transcription termination, missplicing, retrotransposon, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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6
المؤلفون: N.L. Pechatnikova, Andrey V. Marakhonov, Maria Ampleeva, Ochir Migiaev, Alexandra Filatova, Ekaterina Zakharova, Ekaterina Pomerantseva, Mikhail Skoblov, Igor Bychkov, Galina Baydakova, Vladimir Kaimonov, F. A. Konovalov
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 10887, p 10887 (2021)
International Journal of Molecular Sciences
Volume 22
Issue 19مصطلحات موضوعية: Male, Transposable element, congenital, hereditary, and neonatal diseases and abnormalities, QH301-705.5, Retrotransposon, Disease, Biology, transposon insertion, Article, Catalysis, functional analysis, Inorganic Chemistry, Lysosomal storage disease, medicine, Humans, Physical and Theoretical Chemistry, Biology (General), Child, Molecular Biology, Gene, QD1-999, Spectroscopy, transcription termination, Whole genome sequencing, Genetics, Glycogen Storage Disease Type II, Organic Chemistry, retrotransposon, Intron, Infant, alpha-Glucosidases, General Medicine, L1, Prognosis, medicine.disease, Pedigree, Computer Science Applications, Mutagenesis, Insertional, SVA, missplicing, Chemistry, lysosomal storage disease, DNA Transposable Elements, Female, Mobile genetic elements, transposable elements
وصف الملف: application/pdf