Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Nina Demina"'
Autor:
Olga Shchagina, Anna Stepanova, Polina Mishakova, Vitaliy Kadyshev, Nina Demina, Ludmila Bessonova, Sofya Ionova, Daria Guseva, Andrey Marakhonov, Rena Zinchenko, Sergey Kutsev, Aleksander Polyakov
Publikováno v:
Biomedicines, Vol 12, Iss 10, p 2234 (2024)
Background: oculocutaneous albinism (OCA) is a hereditary impairment of skin, hair, and eye pigmentation. The most common form of albinism is autosomal recessive albinism, caused by mutations in the TYR gene, accounting for approximately 40–50% of
Externí odkaz:
https://doaj.org/article/ad0453ce9d92417ea043e16d0daff4da
Autor:
Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
We present a patient with unusual episodes of muscular weakness due to homozygous deletion of exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described with homozygous and compound heterozygous, predominantly loss of f
Externí odkaz:
https://doaj.org/article/3f2af9352416499c8061944c926ff67e
Autor:
Natalia Semenova, Elena Kamenets, Eleonora Annenkova, Andrey Marakhonov, Elena Gusarova, Nina Demina, Daria Guseva, Inga Anisimova, Anna Degtyareva, Natalia Taran, Tatiana Strokova, Ekaterina Zakharova
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 14, p 11758 (2023)
Alagille syndrome (ALGS) is a multisystem condition characterized by cholestasis and bile duct paucity on liver biopsy and variable involvement of the heart, skeleton, eyes, kidneys, and face and caused by pathogenic variants in the JAG1 or NOTCH2 ge
Externí odkaz:
https://doaj.org/article/4321120b3b9a44b48123ce5b343cd07d
Autor:
Olga Levchenko, Elena Dadali, Ludmila Bessonova, Nina Demina, Galina Rudenskaya, Galina Matyushchenko, Tatiana Markova, Inga Anisimova, Natalia Semenova, Olga Shchagina, Oxana Ryzhkova, Rena Zinchenko, Varvara Galkina, Victoria Voinova, Sabina Nagieva, Alexander Lavrov
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 14, p 7764 (2022)
Intellectual development disorder (IDD) is characterized by a general deficit in intellectual and adaptive functioning. In recent years, there has been a growing interest in studying the genetic structure of IDD. Of particular difficulty are patients
Externí odkaz:
https://doaj.org/article/371e4fdd390845f886b7a264cd7d2110
Autor:
Natalia Tikhonova, Nina Demina, Ludmila Klimatckaia, Aleksander Osipov, Mikhail Kudryavtsev, Tatyana Zhavner, Andrei Shpakou
Publikováno v:
Family Medicine & Primary Care Review, Vol 20, Iss 4, Pp 368-372 (2018)
Externí odkaz:
https://doaj.org/article/ab7fc6d0aab64d7b97e8b5fb31f21c20
Autor:
Evgenii V. Melchenko, Polina Gundorova, Vladimir Kenis, Tatyana V. Markova, Elena L. Dadali, Nina Demina, Tatyana S. Nagornova
Publikováno v:
Pediatric Traumatology, Orthopaedics and Reconstructive Surgery. 8:451-460
Background. SaulWilson syndrome (SWS, microcephalic osteodysplastic dysplasia) is a rare genetic variant of skeletal dysplasia and is determined based on the modern classification for thin bone dysplasias. To date, 16 patients with SWS from different
Autor:
Maria Pashchenko, Oxana Ryzhkova, F. A. Konovalov, Denis V Pyankov, T. S. Beskorovainaya, A. V. Polyakov, Nina Demina, Ilya V. Kanivets, O. A. Shchagina
Publikováno v:
Journal of Autism and Developmental Disorders. 51:2159-2163
Autor:
Nina Demina, Andrei Shpakou, Tatyana Zhavner, Aleksander Osipov, Mikhail Kudryavtsev, Natalia Tikhonova, Ludmila Klimatckaia
Publikováno v:
Family Medicine & Primary Care Review, Vol 20, Iss 4, Pp 368-372 (2018)
Arterial hypertension as a factor in the choice of conflict resolution strategies by elderly persons/ N. Tikhonova [ и др.] // Family Medicine & Primary Care Review.- 2018 .- Т.20. - № 4.- С.368-372 Статья
Autor:
A. A. Sharkov, Tatiana D. Krylova, G. E. Rudenskaya, Ilya V. Kanivets, Sergey Korostelev, Inna V. Sharkova, Ekaterina Zakharova, Peter Sparber, V. V. Kadyshev, Ekaterina Pomerantseva, Nina Demina, Mikhail Skoblov, Svetlana V. Mikhailova, Vladimir Kaimonov, Svetlana A. Repina
Publikováno v:
Parkinsonismrelated disorders. 84
Introduction Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological syndrome caused by pathogenic variants in the C19orf12 and is characterized by iron deposition in the basal ganglia and substantia nigra. Only a li
Autor:
Tatiana, Beskorovainaya, Fedor, Konovalov, Nina, Demina, Olga, Shchagina, Maria, Pashchenko, Ilya, Kanivets, Denis, Pyankov, Oxana, Ryzhkova, Alexander, Polyakov
Publikováno v:
Journal of autism and developmental disorders. 51(6)