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Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients Full article

Journal Current Issues in Molecular Biology
ISSN: 1467-3045
Output data Year: 2024, Volume: 46, Number: 5, Pages: 4106-4118 Pages count : 13 DOI: 10.3390/cimb46050252
Authors Koshevaya Yulia S. 1 , Turkunova Mariia E. 2,1 , Vechkasova Anastasia O. 1 , Serebryakova Elena A. 1 , Donnikov Maxim Yu. 3 , Papanov Svyatoslav I. 4 , Chernov Alexander N. 5,6 , Kolbasin Lev N. 3,4 , Kovalenko Lyudmila V. 3 , Glotov Andrey S. 6 , Glotov Oleg S. 7,6
Affiliations
1 Saint-Petersburg State Medical Diagnostic Center (Genetic Medical Center), 194044 Saint Petersburg, Russia
2 Federal State Budget Institution of Higher Education "North-Western State Medical University Named After I.I Mechnikov", Ministry of Public Health of the Russian Federation, 191015 Saint Petersburg, Russia
3 Department of Children's Diseases, Medical Institute of Surgut State University, 628400 Surgut, Russia
4 Surgut Disctrict Clinical Center of Maternity and Childhood Health Care, 628400 Surgut, Russia
5 Department of General Pathology and Pathological Physiology, Institute of Experimental Medicine, 197376 Saint Petersburg, Russia
6 Department of Genomic Medicine, D. O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034 Saint Petersburg, Russia
7 Department of Experimental Medical Virology, Molecular Genetics and Biobanking of Virological and Molecular Genetic Methods of Diagnostics of Children's Scientific and Clinical Center for Infectious Diseases of the Federal Medical and Biological Agency, 197022 Saint Petersburg, Russia
Cite: Koshevaya Y.S. , Turkunova M.E. , Vechkasova A.O. , Serebryakova E.A. , Donnikov M.Y. , Papanov S.I. , Chernov A.N. , Kolbasin L.N. , Kovalenko L.V. , Glotov A.S. , Glotov O.S.
Exome Sequencing for the Diagnostics of Osteogenesis Imperfecta in Six Russian Patients
Current Issues in Molecular Biology. 2024. V.46. N5. P.4106-4118. DOI: 10.3390/cimb46050252 WOS OpenAlex
Identifiers:
Web of science: WOS:001233611900001
OpenAlex: W4396616640
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