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1دورية أكاديمية
المؤلفون: Galina V. Baydakova, Polina G. Tsygankova, Natalia L. Pechatnikova, Olga A. Bazhanova, Yana D. Nazarenko, Ekaterina Y. Zakharova
المصدر: International Journal of Neonatal Screening, Vol 9, Iss 3, p 48 (2023)
مصطلحات موضوعية: biochemical marker, inherited metabolic diseases, acylcarnitines, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, HADHA, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Jiani Yin, Chun-An Chun, Nikolay N. Zavadenko, Natalia L. Pechatnikova, Oxana Yu. Naumova, Harsha V. Doddapaneni, Jianhong Hu, Donna M. Muzny, Christian P. Schaaf, Elena L. Grigorenko
المصدر: Genes, Vol 11, Iss 8, p 853 (2020)
مصطلحات موضوعية: autism, developmental regression, exon capture and sequencing, variant classification, ACMG standards and guidelines, Genetics, QH426-470
وصف الملف: electronic resource
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3
المؤلفون: Svetlana B. Artemyeva, Dmitry V. Vlodavets, Valentina I. Guzeva, Altynshash K. Dzhaksybayeva, Irina V. Zhauniaronak, Ludmila M. Kuzenkova, Marzhan M. Lepessova, Bakhyt D. Myrzalieva, Natalia L. Pechatnikova, Tatyana V. Podkletnova, Vasily M. Suslov, Irina V. Pelipenko, Luca Bello, Niculina Butoianu
المصدر: L.O. Badalyan Neurological Journal. 3:148-151
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::1f2b21161975993a89b2636ee0ca0d1b
https://doi.org/10.46563/2686-8997-2022-3-4-148-151 -
4
المؤلفون: Igor Bychkov, N.L. Sheremet, Tatiana D. Krylova, Natalia L. Pechatnikova, Polina G. Tsygankova, Marina V. Kurkina, Yulia S. Itkis, Ekaterina Zakharova, Viktoria V. Zabnenkova, Aleksandra A. Ilyushkina, S.V. Mikhaylova
المصدر: Journal of Inherited Metabolic Disease. 42:918-933
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Growth Differentiation Factor 15, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Inflammation, Disease, medicine.disease_cause, Young Adult, Metabolic Diseases, Predictive Value of Tests, Positive predicative value, Internal medicine, Genetics, Humans, Endocrine system, Medicine, Child, Genetics (clinical), business.industry, Galactosemia, Area under the curve, Infant, Middle Aged, medicine.disease, Fibroblast Growth Factors, Endocrinology, Case-Control Studies, Child, Preschool, Female, medicine.symptom, business, Biomarkers, Oxidative stress
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5
المؤلفون: Victoria I. Bunik, Tatiana D. Krylova, Alexandra Boyko, Natalia L. Pechatnikova, Vasily A. Aleshin, Ciro Leonardo Pierri, Anna De Grassi, Vyacheslav Yu. Tabakov, Ekaterina Zakharova, Yulia S. Itkis
المصدر: Mitochondrion. 47
مصطلحات موضوعية: 0301 basic medicine, Mitochondrial DNA, Adolescent, RNA, Mitochondrial, Mitochondrial disease, Encephalopathy, Biology, 03 medical and health sciences, RNA, Transfer, Phe, 0302 clinical medicine, medicine, Humans, Point Mutation, Molecular Biology, Gene, Genetics, Brain Diseases, Epilepsy, Transition (genetics), Point mutation, Genetic Diseases, Inborn, Cell Biology, medicine.disease, Heteroplasmy, Mitochondria, 030104 developmental biology, Genes, Mitochondrial, Molecular Medicine, Female, 030217 neurology & neurosurgery, MT-TF
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6
المؤلفون: Jianhong Hu, Chun-An Chun, Natalia L Pechatnikova, Oxana Yu. Naumova, Donna M. Muzny, Christian P. Schaaf, N. N. Zavadenko, Jiani Yin, Elena L. Grigorenko, Harsha Doddapaneni
المصدر: Genes, Vol 11, Iss 853, p 853 (2020)
Genes
Volume 11
Issue 8مصطلحات موضوعية: Genetic Markers, Male, 0301 basic medicine, lcsh:QH426-470, Autism Spectrum Disorder, CDKL5, autism, Biology, Article, MECP2, Cohort Studies, Loss of heterozygosity, 03 medical and health sciences, EHMT1, 0302 clinical medicine, mental disorders, Genetics, medicine, Humans, Genetic Predisposition to Disease, Child, variant classification, Genetics (clinical), exon capture and sequencing, Regressive autism, High-Throughput Nucleotide Sequencing, Infant, ACMG standards and guidelines, medicine.disease, developmental regression, lcsh:Genetics, 030104 developmental biology, Gene Expression Regulation, Autism spectrum disorder, Child, Preschool, Mutation, Disease Progression, Autism, Female, Developmental regression, 030217 neurology & neurosurgery
وصف الملف: application/pdf