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1
المؤلفون: T L Kuraeva, D P Grishina, I É Volkov, E Iu Zakharova, Polina G. Tsygankova, L I Zil'berman
المصدر: Problems of Endocrinology. 59:18-22
مصطلحات موضوعية: Anamnesis, medicine.medical_specialty, Pediatrics, business.industry, Endocrinology, Diabetes and Metabolism, Urinary system, media_common.quotation_subject, Disease, medicine.disease, Lesion, Exon, Endocrinology, Diabetes mellitus, Internal medicine, medicine, Missense mutation, Girl, medicine.symptom, business, media_common
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::5ebf31da0b353eee43a54f8fbe31000b
https://doi.org/10.14341/probl201359118-22 -
2
المؤلفون: I V Poddubnyĭ, Valentina Peterkova, Maria Melikian, N V Udalova, Elizaveta Orlova, N Iu Kalinchenko, G A Poliakova, E Iu Zakharova, L I Shiriaeva, K N Tolstov, Maria Kareva
المصدر: Problems of Endocrinology. 58:50-56
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Thyroid, Breast tumours, Biology, medicine.disease, medicine.anatomical_structure, medicine, Adrenal adenoma, Lentiginosis, Testicular tumours, Carney complex, Adrenocortical hyperplasia
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::3bcfe0db7fe3ec5d8f0de4b7e84b378b
https://doi.org/10.14341/probl201258550-56 -
3
المؤلفون: N L, Sheremet, N A, Khanakova, T A, Nevinitsyna, P G, Tsygankova, Iu S, Itkis, T D, Krylova, A N, Loginova, A L, Chukhrova, L S, Venkova, D M, Svistunova, I S, Chernoivanenko, E Iu, Zakharova, A V, Poliakov, A A, Minin
المصدر: Vestnik oftalmologii. 130(6)
مصطلحات موضوعية: Diagnosis, Differential, Membrane Potential, Mitochondrial, Multifactorial Inheritance, Optic Atrophies, Hereditary, Genetic Carrier Screening, Therapies, Investigational, Nerve Degeneration, Disease Management, Genetic Variation, Humans, DNA, Mitochondrial, Forecasting, Mitochondria
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6bc7bd84c1a16241497c74be8d8b6071
https://pubmed.ncbi.nlm.nih.gov/25715555 -
4
المؤلفون: E Iu, Zakharova, S V, Mikhaĭlova, T Iu, Proshliakova, G E, Rudenskaia
المصدر: Vestnik Rossiiskoi akademii meditsinskikh nauk. (12)
مصطلحات موضوعية: Membrane Glycoproteins, Mutation, Genetic Variation, Humans, Genetic Predisposition to Disease, Niemann-Pick Disease, Type C, DNA, Genetic Therapy, Carrier Proteins
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9f3f409139db9293ecb8625df311e625
https://pubmed.ncbi.nlm.nih.gov/23530428 -
5
المؤلفون: G E, Rudenskaia, M V, Kurkina, E Iu, Zakharova
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 112(10)
مصطلحات موضوعية: Adult, Male, Adolescent, Cerebellar Ataxia, Apraxias, Genetic Carrier Screening, DNA Mutational Analysis, DNA Helicases, Nuclear Proteins, DNA, Exons, Magnetic Resonance Imaging, Multifunctional Enzymes, DNA-Binding Proteins, Ataxia Telangiectasia, Mutation, Humans, Female, Hypoalbuminemia, RNA Helicases
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::5b0c5ab05d54312c0807d84ec70add19
https://pubmed.ncbi.nlm.nih.gov/23250602 -
6
المؤلفون: V A, Peterkova, T L, Kuraeva, S A, Prokof'ev, A O, Emel'ianov, E Iu, Zakharova, P G, Tsygankova, D P, Grishina
المصدر: Vestnik Rossiiskoi akademii meditsinskikh nauk. (1)
مصطلحات موضوعية: Male, Genotyping Techniques, Infant, Newborn, HLA-DR Antigens, Pedigree, Insulin-Secreting Cells, Glucokinase, Insulin Secretion, Mutation, Diabetes Mellitus, Humans, Hypoglycemic Agents, Insulin, Female, Genetic Predisposition to Disease, Age of Onset, Aged, Genome-Wide Association Study, Transcription Factors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::6f54a037cc961ced6ac69b08af4d4faf
https://pubmed.ncbi.nlm.nih.gov/22550716 -
7
المؤلفون: G E, Rudenskaia, T M, Bukina, E Iu, Zakharova
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 111(7)
مصطلحات موضوعية: Adult, Mental Disorders, Humans, Female, Niemann-Pick Disease, Type C
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9e4ca60f206f2cceebcc3a7febbd38a5
https://pubmed.ncbi.nlm.nih.gov/21947076 -
8
المؤلفون: G E, Rudenskaia, E Iu, Zakharova, S L, Karpin, D A, Uchaev
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(3 Suppl 2)
مصطلحات موضوعية: Young Adult, Fatal Outcome, Lafora Disease, Mutation, Humans, Anticonvulsants, Electroencephalography, Female, Genetic Predisposition to Disease, DNA, Protein Tyrosine Phosphatases, Non-Receptor, Sweat Glands
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::ade3a22b1d954cd565c879ddfb1cba69
https://pubmed.ncbi.nlm.nih.gov/20873469 -
9
المؤلفون: P G, Tsygankova, S V, Mikhaĭlova, E Iu, Zakharova, N A, Pichkur, E S, Il'ina, E A, Nikolaeva, G E, Rudenskaia, E L, Dadali, L M, Kolpakchi, I D, Fedoniuk, G N, Matiushchenko
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 110(1)
مصطلحات موضوعية: Male, Genotype, Infant, Membrane Proteins, DNA, Magnetic Resonance Imaging, Polymerase Chain Reaction, Russia, Diagnosis, Differential, Mitochondrial Proteins, Child, Preschool, Mutation, Prevalence, Humans, Female, Genetic Predisposition to Disease, Leigh Disease, Child, Ukraine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::9bc4e11e8e09da8a85a3af66b9563d7c
https://pubmed.ncbi.nlm.nih.gov/20436434 -
10
المؤلفون: S V, Mikhaĭlova, E Iu, Zakharova, A V, Banin, A A, Demushkina, A S, Petrukhin
المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 109(9)
مصطلحات موضوعية: Diagnosis, Differential, Molecular Diagnostic Techniques, Spinal Cord, Leukoencephalopathies, DNA Mutational Analysis, Humans, Lactic Acid, Child, Brain Stem
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::bf47a1ac699b2499696735253b7478ad
https://pubmed.ncbi.nlm.nih.gov/19770827