Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Djamila Saydaeva"'
Autor:
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent associati
Externí odkaz:
https://doaj.org/article/5dfc78da418c415dbb00aa1672da4957
Autor:
Andrey Marakhonov, Elena Serebryakova, Anna Mukhina, Anastasia Vechkasova, Nikolai Prokhorov, Irina Efimova, Natalia Balinova, Anastasia Lobenskaya, Tatyana Vasilyeva, Victoria Zabnenkova, Oxana Ryzhkova, Yulia Rodina, Dmitry Pershin, Nadezhda Soloveva, Anna Fomenko, Djamila Saydaeva, Aset Ibisheva, Taisiya Irbaieva, Alexander Koroteev, Rena Zinchenko, Sergey Voronin, Anna Shcherbina, Sergey Kutsev
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 19, p 10844 (2024)
The expanded newborn screening (NBS) program in the Russian Federation was initiated in 2023, among which severe combined immunodeficiency (SCID) is screened using TREC/KREC assays. Here, we report a rare case of a TP63-associated disease identified
Externí odkaz:
https://doaj.org/article/3b6702a753e74b0f826ce46b88e6f036
Autor:
Marakhonov, Andrey1 (AUTHOR) efimova.geneticist@gmail.com, Serebryakova, Elena2 (AUTHOR) el.a.serebryakova@mail.ru, Mukhina, Anna3 (AUTHOR) ffmanya@yandex.ru, Vechkasova, Anastasia2 (AUTHOR) vechkasova.nastia@mail.ru, Prokhorov, Nikolai4 (AUTHOR) niprokho@iu.edu, Efimova, Irina1 (AUTHOR) balinovs@mail.ru, Balinova, Natalia1 (AUTHOR) vasilyeva_debrie@mail.ru, Lobenskaya, Anastasia2 (AUTHOR) lobenskaya@mail.ru, Vasilyeva, Tatyana1 (AUTHOR) zabnenkova.vv@gmail.com, Zabnenkova, Victoria1 (AUTHOR) ryzhkova@dnalab.ru, Ryzhkova, Oxana1 (AUTHOR) renazinchenko@mail.ru, Rodina, Yulia3 (AUTHOR) rodina.julija@rambler.ru, Pershin, Dmitry3 (AUTHOR) dimprsh@icloud.com, Soloveva, Nadezhda5 (AUTHOR) nadia82@bk.ru, Fomenko, Anna5 (AUTHOR) fomenkoanna8515@gmail.com, Saydaeva, Djamila6 (AUTHOR) saydaeva78@mail.ru, Ibisheva, Aset6 (AUTHOR) ibisheva18@mail.ru, Irbaieva, Taisiya7 (AUTHOR) irbaieva_mz@mail.ru, Koroteev, Alexander2 (AUTHOR) alexkoroteev@mail.ru, Zinchenko, Rena1 (AUTHOR) voronin.sv@med-gen.ru
Publikováno v:
International Journal of Molecular Sciences. Oct2024, Vol. 25 Issue 19, p10844. 10p.