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المؤلفون: Barashkov, Nikolay A.^{Aff1, Aff2}, Konovalov, Fedor A., Borisova, Tuyara V., Teryutin, Fedor M., Solovyev, Aisen V.^{Aff1, Aff2}, Pshennikova, Vera G., Sapojnikova, Nadejda V., Vychuzhina, Lyubov S., Romanov, Georgii P.^{Aff1, Aff2}, Gotovtsev, Nyurgun N., Morozov, Igor V.^{Aff5, Aff6}, Bondar, Alexander A., Platonov, Fedor A., Burtseva, Tatiana E.^{Aff7, Aff8}, Khusnutdinova, Elza K.^{Aff2, Aff9, Aff10}, Posukh, Olga L.^{Aff6, Aff11}, Fedorova, Sardana A.^{Aff1, Aff2}

المصدر: European Journal of Human Genetics. 29(6):965-976

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المؤلفون: Nikanorova, Alena A., Barashkov, Nikolay A., Nakhodkin, Sergey S., Pshennikova, Vera G., Solovyev, Aisen V., Romanov, Georgii P., Kuzmina, Sargylana S., Sazonov, Nikolay N., Burtseva, Tatiana E., Odland, Jon Øyvind, Fedorova, Sardana A.

الإتاحة: https://hdl.handle.net/11250/3035531

المؤلفون: Barashkov, Nikolay A., Romanov, Georgii P., Borisova, Uigulaana P., Solovyev, Aisen V., Pshennikova, Vera G., Teryutin, Fedor M., Bondar, Alexander A., Morozov, Igor V., Khusnutdinova, Elza K., Posukh, Olga L., Burtseva, Tatiana E., Odland, Jon Øyvind, Fedorova, Sardana A.

الإتاحة: https://hdl.handle.net/11250/2993798

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المؤلفون: Douglas, Natalia I, Pavlova, Tatiana U, Burtseva, Tatiana E, Rad, Yana G, Petrova, Palmira G, Odland, Jon Øyvind

المصدر: International Jo

الإتاحة: https://hdl.handle.net/10037/7471

المؤلفون: Burtseva, Tatiana E, Uvarova, Tatiana E, Tomsky, Mikhail I, Odland, Jon Øyvind

المصدر: International Jo

الإتاحة: https://hdl.handle.net/10037/7483

المؤلفون: Barashkov, Nikolay A., Romanov, Georgii P., Borisova, Uigulaana P., Solovyev, Aisen V., Pshennikova, Vera G., Teryutin, Fedor M., Bondar, Alexander A., Morozov, Igor V., Khusnutdinova, Elza K., Posukh, Olga L., Burtseva, Tatiana E., Odland, Jon Øyvind, Fedorova, Sardana A.

المصدر: International Journal of Circumpolar Health; January 2019, Vol. 78 Issue: 1

المؤلفون: Barashkov NA; a Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.; b Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia., Romanov GP; a Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.; b Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia., Borisova UP; b Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia., Solovyev AV; a Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.; b Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia., Pshennikova VG; a Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.; b Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia., Teryutin FM; a Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.; c Department of Professional Pathology , Republican Hospital №2 - Center for Emergency Medical Aid , Yakutsk , Russia., Bondar AA; d Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine , Siberian Branch of the Russian Academy of Sciences , Novosibirsk , Russia., Morozov IV; d Genomics Core Facility, Institute of Chemical Biology and Fundamental Medicine , Siberian Branch of the Russian Academy of Sciences , Novosibirsk , Russia.; e Novosibirsk State University , Novosibirsk , Russia., Khusnutdinova EK; f Laboratory of Human Molecular Genetics, Ufa Federal Research Center of Russian Academy of Sciences, Institute of Biochemistry and Genetics , Ufa , Russia.; g Department of Genetics and Fundamental Medicine , Bashkir State University , Ufa , Russia., Posukh OL; e Novosibirsk State University , Novosibirsk , Russia.; h Federal Research Center Institute of Cytology and Genetics , Siberian Branch of the Russian Academy of Sciences , Novosibirsk , Russia., Burtseva TE; i Department of Pediatrics and Child Surgery , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia.; j Laboratory of monitoring the children health and medico-environmental research , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia., Odland JØ; k Department of Public Health and Nursing, Faculty on Medicine and Health Sciences , NTNU The Norwegian University of Science and Technology , Trondheim , Norway., Fedorova SA; a Laboratory of Molecular Genetics , Yakut Science Centre of Complex Medical Problems , Yakutsk , Russia.; b Laboratory of Molecular Biology , M.K. Ammosov North-Eastern Federal University , Yakutsk , Russia.

المصدر: International journal of circumpolar health [Int J Circumpolar Health] 2019 Dec; Vol. 78 (1), pp. 1630219.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Taylor & Francis Country of Publication: United States NLM ID: 9713056 Publication Model: Print Cited Medium: Internet ISSN: 2242-3982 (Electronic) Linking ISSN: 12399736 NLM ISO Abbreviation: Int J Circumpolar Health Subsets: MEDLINE

مواضيع طبية MeSH: Hearing Loss, Unilateral/*etiology , Hearing Loss, Unilateral/*genetics , Microphthalmia-Associated Transcription Factor/*genetics , Waardenburg Syndrome/*genetics , Waardenburg Syndrome/*pathology, Adolescent ; Humans ; Male ; Phenotype ; Siberia

SCR Disease Name: Waardenburg syndrome type 2