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المؤلفون: Mikhail Yurevich Skoblov, A. A. Gus’kova, Nikolay V. Zernov
المصدر: Diagnostics, Vol 11, Iss 982, p 982 (2021)
Diagnostics
Volume 11
Issue 6مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Medicine (General), Concordance, Clinical Biochemistry, Population, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, R5-920, Tandem repeat, Molecular genetics, medicine, Allele, education, Genotyping, FSHD1 diagnosis, Southern blot, Genetics, education.field_of_study, Penetrance, qPCR, 030104 developmental biology, genotyping, D4Z4 array, 030217 neurology & neurosurgery
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec05c2fe03de85f65440483e721a9081Test
https://www.mdpi.com/2075-4418/11/6/982Test -
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المؤلفون: Nikolay V. Zernov, Mikhail Skoblov, Elena L. Dadali, Vyacheslav Tabakov, Andrey V. Marakhonov, Inna V. Sharkova
المصدر: Gene. 672:165-171
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Proband, Contracture, Ullrich congenital muscular dystrophy, DNA Mutational Analysis, Collagen Type VI, Biology, Muscular Dystrophies, 03 medical and health sciences, 0302 clinical medicine, Collagen VI, Genetics, medicine, Humans, Allele, Child, Myopathy, Gene, Cells, Cultured, Exome sequencing, Sclerosis, Base Sequence, Bethlem myopathy, General Medicine, medicine.disease, Molecular biology, Extracellular Matrix, Pedigree, 030104 developmental biology, Molecular Diagnostic Techniques, Codon, Nonsense, Female, medicine.symptom, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb2b3e2cb630ebf81ef1d7db16d953dcTest
https://doi.org/10.1016/j.gene.2018.06.026Test -
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المؤلفون: J. V. Vyakhireva, M. Yu. Skoblov, A. A. Gus’kova, Elena L. Dadali, Andrey V. Marakhonov, Nikolay V. Zernov
المصدر: Russian Journal of Genetics. 53:640-650
مصطلحات موضوعية: 0301 basic medicine, Genetics, Disease, Biology, medicine.disease, Human genetics, Pathogenesis, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, DUX4, medicine, Facioscapulohumeral muscular dystrophy, Epigenetics, Muscular dystrophy, Gene, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0960f9f5c43f7dd959b42c32cda69d40Test
https://doi.org/10.1134/s102279541706014xTest -
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المؤلفون: Mikhail Skoblov, Nikolay V. Zernov
المصدر: BMC Medical Genomics
BMC Medical Genomics, Vol 12, Iss S2, Pp 79-85 (2019)مصطلحات موضوعية: 0301 basic medicine, lcsh:Internal medicine, Genotype-phenotype correlation, lcsh:QH426-470, Disease, Review, Biology, Methylation, Severity of Illness Index, Anticipation, Epigenesis, Genetic, 03 medical and health sciences, 0302 clinical medicine, DUX4, Genetics, Humans, Epigenetics, lcsh:RC31-1245, Genetics (clinical), Genetic Association Studies, Homeodomain Proteins, FSHD, D4Z4, Autosomal dominant trait, Inherited disease, Penetrance, Phenotype, Human genetics, Muscular Dystrophy, Facioscapulohumeral, lcsh:Genetics, 030104 developmental biology, 030220 oncology & carcinogenesis, Ectopic expression, Chromosomes, Human, Pair 4
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c59bd439eeb077a33253c927336b3f0Test
http://europepmc.org/articles/PMC6416831Test -
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المصدر: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 117(11)
مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Adolescent, Neurological examination, Russia, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Blood serum, Internal medicine, Medicine, Facioscapulohumeral muscular dystrophy, Humans, Child, biology, medicine.diagnostic_test, business.industry, Middle Aged, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Molecular analysis, Psychiatry and Mental health, 030104 developmental biology, Chromosome 4, Phenotype, biology.protein, Russian population, Creatine kinase, Female, Neurology (clinical), Age of onset, Chromosomes, Human, Pair 4, business, 030217 neurology & neurosurgery, Microsatellite Repeats
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::75314e173ea23471d42cb1a0757f2f0fTest
https://pubmed.ncbi.nlm.nih.gov/29265097Test -
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المصدر: Reproductive Biology and Endocrinology : RB&E
مصطلحات موضوعية: 0301 basic medicine, Infertility, Isolated hypogonadotropic hypogonadism, Adult, Male, endocrine system, medicine.medical_specialty, Short Communication, Reproductive medicine, Gonadotropin-Releasing Hormone Signaling Pathway, Mutation, Missense, Biology, Gonadotropin-Releasing Hormone, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Pregnancy, Internal medicine, medicine, Humans, Secretion, Sperm Injections, Intracytoplasmic, 030219 obstetrics & reproductive medicine, Hypogonadism, Infant, Newborn, Pregnancy Outcome, Obstetrics and Gynecology, medicine.disease, Phenotype, 030104 developmental biology, Reproductive Medicine, Hypothalamus, Female, Infertility, Female, hormones, hormone substitutes, and hormone antagonists, Developmental Biology, Hormone, Signal Transduction
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7dcd7c88e8d8783ed7d917393749b879Test
http://europepmc.org/articles/PMC4992333Test -
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المؤلفون: Nikolay V. Zernov, Yutaka Shimomura, Andrey V. Marakhonov, Rena A. Zinchenko, Mikhail Skoblov, Anna V. Abrukova, Tatyana A. Vasilyeva, F. A. Konovalov
المصدر: The Journal of investigative dermatology. 136(6)
مصطلحات موضوعية: 0301 basic medicine, Male, Type I keratin, DNA Mutational Analysis, Mutation, Missense, Genes, Recessive, Dermatology, Biology, Biochemistry, Inner root sheath, Sampling Studies, Russia, 030207 dermatology & venereal diseases, 03 medical and health sciences, Exon, 0302 clinical medicine, Keratins, Hair-Specific, Keratin, medicine, Missense mutation, Humans, Genetic Predisposition to Disease, Molecular Biology, Sequence Deletion, chemistry.chemical_classification, Genetics, integumentary system, Alopecia, Cell Biology, Exons, Hair follicle, medicine.disease, Molecular biology, Pedigree, 030104 developmental biology, medicine.anatomical_structure, Phenotype, Hair disease, chemistry, Haplotypes, Hypotrichosis, Female, Hair Diseases, Hair Follicle, Hair
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7c4f556aaea87df81834d1506e89c7Test
https://pubmed.ncbi.nlm.nih.gov/26902920Test