المؤلفون: S. V. Mikhailova, E. V. Saifullina, P. V. Baranova, V. P. Vorontsova, D. I. Gribov, M. V. Zhivihina, A. N. Slatetskaya, R. V. Magzhanov, V. A. Samokhvalov, M. N. Virtseva, L. P. Borscheva, E. E. Koh, M. V. Novikova, A. V. Abrukova, E. Yu. Belyashova, N. Yu. Gerasimenko, L. V. Guseva, Zh. V. Yukhimenko, N. V. Nikitina, T. I. Belyaeva, T. A. Shkurko, N. A. Pichkur, V. S. Kakaulina, N. L. Pechatnikova, N . A. Polyakova, S. A. Korostelev, D. V. Pyankov, I. V. Kanivets, N. A. Demina, E. Yu. Pyrkova, G. V. Baidakova, M. V. Kurkina, E. Yu. Zakharova

المصدر: Нервно-мышечные болезни, Vol 11, Iss 2, Pp 61-79 (2021)

مصطلحات موضوعية: glutaric acidemia (aciduria) type 1, clinical signs, clinical neuroimaging characteristics, macrocephaly, magnetic resonance imagining, neonatal screening, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://nmb.abvpress.ru/jour/article/view/451; https://doaj.org/toc/2222-8721; https://doaj.org/toc/2413-0443

URL الوصول: https://doaj.org/article/7260ea8a4de74abc9f7f0ad19298c84e

المؤلفون: Nika V. Petrova, Andrey V. Marakhonov, Natalia V. Balinova, Anna V. Abrukova, Fedor A. Konovalov, Sergey I. Kutsev, Rena A. Zinchenko

المصدر: Genes; Volume 12; Issue 6; Pages: 820

مصطلحات موضوعية: hearing loss, deafness, Chuvash population, GIPC3, population frequency, “bottle neck” effect

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes12060820

الاتاحة: https://doi.org/10.3390/genes12060820

المؤلفون: Natalya A. Zubkova, Olesya A. Gioeva, Vasiliy M. Petrov, Evgeny V. Vasiliev, Alexei V. Timofeev, Anna V. Abrukova, Anatoly N. Tiulpakov

المصدر: Сахарный диабет, Vol 20, Iss 5, Pp 384-387 (2017)

مصطلحات موضوعية: maturity-onset diabetes of the young, gestational diabetes mellitus, mody, pax4, mody9, ngs, Nutritional diseases. Deficiency diseases, RC620-627

Relation: https://www.dia-endojournals.ru/jour/article/view/9322; https://doaj.org/toc/2072-0351; https://doaj.org/toc/2072-0378; https://doaj.org/article/dcd57f6c06544c2088586f6c764af6a9

الاتاحة: https://doi.org/10.14341/DM9322
https://doaj.org/article/dcd57f6c06544c2088586f6c764af6a9

المؤلفون: Anna V. Abrukova, N. V. Balinova, Nika V. Petrova, F. A. Konovalov, Rena A. Zinchenko, Andrey V. Marakhonov, Sergey I. Kutsev

المصدر: Genes, Vol 12, Iss 820, p 820 (2021)
Genes; Volume 12; Issue 6; Pages: 820

مصطلحات موضوعية: 0301 basic medicine, Hearing loss, Population, Locus (genetics), Biology, QH426-470, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, deafness, medicine, otorhinolaryngologic diseases, Genetics, 030223 otorhinolaryngology, education, Genotyping, Genetics (clinical), Exome sequencing, hearing loss, Sanger sequencing, education.field_of_study, Chuvash population, population frequency, medicine.disease, “bottle neck” effect, GIPC3, 030104 developmental biology, symbols, Allelic heterogeneity, Sensorineural hearing loss, medicine.symptom

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::468ea5a87a5ab7ad29dce8c817e15fc4
https://www.mdpi.com/2073-4425/12/6/820

المؤلفون: Sungwon Choi, Mike Lee, Amy L. Shiu, Sek Jin Yo, Gregory W. Aponte, S. Choi, M. Lee, A. L. Shiu, S. J. Yo, G. Hallden, G. W. Aponte, A. Kazantseva, A. Goltsov, R. Zinchenko, A. P. Grigorenko, A. V. Abrukova, Y. K. Moliaka, G. Kirillov, Z. Guo, S. Lyle, E. K. Ginter, E. I. Rogaev

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: http://ajpgi.physiology.org/cgi/reprint/292/1/G98.pdf.

وصف الملف: application/pdf

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.107.7914; http://ajpgi.physiology.org/cgi/reprint/292/1/G98.pdf

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.107.7914
http://ajpgi.physiology.org/cgi/reprint/292/1/G98.pdf

المؤلفون: E. N. Savaskina, A. A. Stepanova, A. V. Polyakov, A. V. Abrukova

المصدر: Russian Journal of Genetics. 48:731-737

مصطلحات موضوعية: Genetics, education.field_of_study, Linkage disequilibrium, Population, Haplotype, Biology, medicine.disease, Cystic fibrosis, Cystic fibrosis transmembrane conductance regulator, Mutation (genetic algorithm), medicine, biology.protein, Population study, education, Allele frequency

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::bf62037e938ae7a9d7613ee247f99c02
https://doi.org/10.1134/s1022795412060166

المؤلفون: A. V. Polyakov, Ekaterina N Savaskina, Maxim V Nikulin, Anna V. Abrukova, Rena A. Zinchenko, E. A. Bliznetz, Svetlana M Tverskaya, E. K. Ginter, Alexander G. Kirillov

المصدر: European Journal of Human Genetics. 17:664-672

مصطلحات موضوعية: Male, Vacuolar Proton-Translocating ATPases, Linkage disequilibrium, DNA Mutational Analysis, Molecular Sequence Data, Population, Genes, Recessive, Biology, Polymorphism, Single Nucleotide, Linkage Disequilibrium, Article, Russia, Frameshift mutation, Gene Frequency, Genetics, medicine, Humans, education, Allele frequency, Polymorphism, Single-Stranded Conformational, Genetics (clinical), education.field_of_study, Splice site mutation, Base Sequence, Chromosomes, Human, Pair 11, Haplotype, Chromosome Mapping, Osteopetrosis, medicine.disease, Founder Effect, Haplotypes, Mutation, Female, RNA Splice Sites, Polymorphism, Restriction Fragment Length, Microsatellite Repeats, Founder effect

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2092c3a579b2529933925126545bdb7d
https://doi.org/10.1038/ejhg.2008.234

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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e7c4f556aaea87df81834d1506e89c7
https://pubmed.ncbi.nlm.nih.gov/26902920

المؤلفون: Anastasiya V. Kazantseva, Zhiru Guo, Rena A. Zinchenko, Anna V. Abrukova, Alexander G. Kirillov, Andrey Goltsov, Evgeny I. Rogaev, E. K. Ginter, Yuri K. Moliaka, Anastasia P. Grigorenko, Stephen Lyle

المصدر: Science. 314:982-985

مصطلحات موضوعية: Genetic Markers, Male, Heterozygote, Retroelements, Molecular Sequence Data, Gene Expression, Phospholipase, Hypotrichosis, medicine.disease_cause, Russia, Alu Elements, medicine, Humans, Amino Acid Sequence, Lipase, Gene, Recombination, Genetic, Genetics, Mutation, Multidisciplinary, Base Sequence, integumentary system, biology, LPAR6, Homozygote, Chromosome, Exons, Lipid Metabolism, medicine.disease, Pedigree, Protein Structure, Tertiary, Cell biology, Hair loss, Tandem Repeat Sequences, biology.protein, Human hair growth, Female, Chromosomes, Human, Pair 3, Lod Score, Hair Follicle, Gene Deletion, Hair

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28a1927b64ada3c17eca96414a10a8d2
https://doi.org/10.1126/science.1133276

المؤلفون: A A, Stepanova, A V, Abrukova, E N, Savaskina, A V, Poliakov

المصدر: Genetika. 48(7)

مصطلحات موضوعية: Genetics, Population, Cystic Fibrosis, Gene Frequency, Mutation, Ethnicity, Cystic Fibrosis Transmembrane Conductance Regulator, Humans, Russia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::10526d83161347d3ee899ef4e8f793f6
https://pubmed.ncbi.nlm.nih.gov/22988772

المؤلفون: G I, El'chinova, P A, Zinchenko, A G, Kirillov, A V, Abrukova

المصدر: Genetika. 41(6)

مصطلحات موضوعية: Rural Population, Urban Population, Pregnancy, Reproduction, Ethnicity, Humans, Female, Russia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::66504b2dae2854badc3fd51db8fcb32f
https://pubmed.ncbi.nlm.nih.gov/16080612