日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Crouzon syndrome: preimplantation genetic testing for a familial case with a whole and a mosaic variant of the disease

克鲁宗综合征:对携带完整变异基因和嵌合变异基因的家族性病例进行植入前基因检测

Soloveva, E V; Skleimova, M M; Minaycheva, L I; Garaeva, A F; Bakulina, E M; Ladygina, E A; Kanbekova, O R; Seitova, G N

A case report of Pallister-Killian syndrome with an unusual mosaic supernumerary marker chromosome 12 with interstitial 12p13.1-p12.1 duplication

一例伴有罕见嵌合型超数标记染色体12和12p13.1-p12.1间质重复的Pallister-Killian综合征病例报告

T V Karamysheva # ,I N Lebedev # ,L I Minaycheva ,L P Nazarenko ,A A Kashevarova ,D A Fedotov ,N A Skryabin ,M E Lopatkina ,A D Cheremnykh ,E A Fonova ,T V Nikitina ,E A Sazhenova ,M M Skleimova ,N A Kolesnikov ,G V Drozdov ,Y S Yakovleva ,G N Seitova ,K E Orishchenko ,N B Rubtsov

Analysis of Association of Genetic Markers in the LUZP2 and FBXO40 Genes with the Normal Variability in Cognitive Performance in the Elderly

分析LUZP2和FBXO40基因遗传标记与老年人认知功能正常变异的关联

Stepanov, Vadim; Vagaitseva, Kseniya; Bocharova, Anna; Marusin, Andrey; Markova, Valentina; Minaycheva, Larisa; Makeeva, Oksana