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

Marfanoid phenotype with intellectual disability associated with NKAP mutation: a case report

NKAP基因突变相关的伴有智力障碍的马凡氏表型:病例报告

Semyachkina, Alla N; Nikolaeva, Ekaterina A; Gritsevskaya, Daria Iu; Voinova, Victoria Yu; Kuramagomedova, Rabiat G; Bochenkov, Sergei V; Groznova, Olga S; Parfenenko, Mariia A; Kalashnikova, Olga V; Isupova, Evgenia A

Pregnancy and Childbirth in Neurodivergent Women: Shift Towards Personalized Maternity Care

神经多样性女性的妊娠和分娩:迈向个性化孕产护理

Avdeeva, Anna M; Parfenenko, Mariia A; Bryzgalina, Elena V; Muminova, Kamilla T; Khodzhaeva, Zulfiya S

Cardiac arrhythmia, developmental delay, epilepsy and ichthyosis due to Xp22.31 deletion: review of literature and case report

Xp22.31缺失引起的心律失常、发育迟缓、癫痫和鱼鳞病:文献综述及病例报告

Dantsev, Ilya S; Buianova, Anastasiia A; Polykova, Ekaterina B; Nikolaeva, Ekaterina A; Vasilyev, Evgenii V; Yakshina, Angelina Iu; Parfenenko, Mariia A; Yablonskaya, Mariia I; Kurinnaia, Oksana S; Iourov, Ivan Yu

Novel missense variants in brain morphogenic genes associated with depression and schizophrenia

与抑郁症和精神分裂症相关的脑形态发生基因中的新型错义变异

Karagyaur, Maxim; Primak, Alexandra; Bozov, Kirill; Sheleg, Dmitriy; Arbatsky, Mikhail; Dzhauari, Stalik; Illarionova, Maria; Semina, Ekaterina; Samokhodskaya, Larisa; Klimovich, Polina; Velichko, Arkadiy; Drach, Mikhail; Sotskaya, Ekaterina; Popov, Vladimir; Rubina, Kseniya; Parfenenko, Mariia; Makus, Julia; Tsygankov, Boris; Tkachuk, Vsevolod; Neyfeld, Elena

An FGFR2 mutation as the potential cause of a new phenotype including early-onset osteoporosis and bone fractures: a case report

FGFR2 基因突变可能是导致新表型(包括早发性骨质疏松症和骨折)的潜在原因:病例报告

Dantsev, Ilya S; Parfenenko, Mariia A; Radzhabova, Gulnara M; Nikolaeva, Ekaterina A