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

Different Diagnoses, Common Ancestry: 22q11.2 Deletion Syndrome and Wiskott-Aldrich Syndrome in the Same Family

不同诊断,共同祖先:同一家族中同时患有22q11.2缺失综合征和威斯科特-奥尔德里奇综合征

Bobreshova, Anastasia; Efimova, Irina; Mukhina, Anna; Bogdanova, Daria; Ogneva, Anna; Yukhacheva, Daria; Markova, Zhanna; Pershin, Dmitry; Rodina, Yulia; Balinova, Natalya; Raykina, Elena; Zhavoronok, Daria; Seitova, Gulnara; Orlov, Dmitrii; Drozdov, Gleb; Sermyagina, Irina; Zinchenko, Rena; Shilova, Nadezda; Polyakov, Alexander; Voronin, Sergey; Shcherbina, Anna; Kutsev, Sergey; Marakhonov, Andrey

[Culler-Jones syndrome polymorphism]

[库勒-琼斯综合征多态性]

Raykina, E N; Kolodkina, A A; Bolmasova, A V; Bondarenko, S P; Pankratova, M S; Tiulpakov, A N; Zabudskaya, K G; Bezlepkina, O B

Clinical and functional spectrum of RAC2-related immunodeficiency.

RAC2相关免疫缺陷的临床和功能谱

Donkó Ágnes, Sharapova Svetlana O, Kabat Juraj, Ganesan Sundar, Hauck Fabian H, Bergerson Jenna R E, Marois Louis, Abbott Jordan, Moshous Despina, Williams Kelli W, Campbell Nicholas, Martin Paul L, Lagresle-Peyrou Chantal, Trojan Timothy, Kuzmenko Natalia B, Deordieva Ekaterina A, Raykina Elena V, Abers Michael S, Abolhassani Hassan, Barlogis Vincent, Milla Carlos, Hall Geoffrey, Mousallem Talal, Church Joseph, Kapoor Neena, Cros Guilhem, Chapdelaine Hugo, Franco-Jarava Clara, Lopez-Lerma Ingrid, Miano Maurizio, Leiding Jennifer W, Klein Christoph, Stasia Marie José, Fischer Alain, Hsiao Kuang-Chih, Martelius Timi, Seppänen Mikko R J, Barmettler Sara, Walter Jolan, Masmas Tania N, Mukhina Anna A, Falcone Emilia Liana, Kracker Sven, Shcherbina Anna, Holland Steven M, Leto Thomas L, Hsu Amy P

Case report: JAK inhibitor treatment of immune dysregulation symptoms in a patient with PTPN2 deficiency

病例报告:JAK抑制剂治疗PTPN2缺陷患者的免疫失调症状

Roppelt, Anna; Markina, Ulyana; Beloglazova, Irina; Parshin, Vasily; Kanner, Dmitry; Pershin, Dmitry; Fadeeva, Mariia; Raykina, Elena; Aleksenko, Maxim; Karaulov, Alexander; Lysenko, Mariana; Fomina, Daria

Novel LYST Variants Lead to Aberrant Splicing in a Patient with Chediak-Higashi Syndrome

新型LYST变异导致切迪亚克-希加西综合征患者出现异常剪接

Aleksenko, Maxim; Vlasova, Elena; Kieva, Amina; Abasov, Ruslan; Rodina, Yulia; Maschan, Michael; Shcherbina, Anna; Raykina, Elena

[Growth hormone - 30 years of clinical practice: past, present, future]

【生长激素——30年临床实践:过去、现在和未来】

Dedov, I I; Bezlepkina, O B; Pankratova, M S; Nagaeva, E V; Raykina, E N; Peterkova, V A

Novel hemizygous CORO1A variant leads to combined immunodeficiency with defective platelet calcium signaling and cell mobility

一种新型的半合子 CORO1A 变异导致联合免疫缺陷,并伴有血小板钙信号传导和细胞迁移障碍。

Khoreva, Anna; Butov, Kirill R; Nikolaeva, Elena I; Martyanov, Alexey; Kulakovskaya, Elena; Pershin, Dmitry; Alexenko, Maxim; Kurnikova, Maria; Abasov, Ruslan; Raykina, Elena; Abramov, Dmitry; Arnaudova, Kristina; Rodina, Yulia; Trubina, Natalia; Skvortsova, Yulia; Balashov, Dmitry; Sveshnikova, Anastasia; Maschan, Alexey; Novichkova, Galina; Panteleev, Mikhail; Shcherbina, Anna

Unusual Presentation of SET::NUP214-Associated Concomitant Hematological Neoplasm in a Child-Diagnostic and Treatment Struggle

儿童SET::NUP214相关伴随血液肿瘤的罕见表现——诊断和治疗的挑战

Menchits, Yaroslav; Salimova, Tatiana; Komkov, Alexander; Abramov, Dmitry; Konyukhova, Tatiana; Abasov, Ruslan; Raykina, Elena; Itov, Albert; Gaskova, Marina; Borkovskaia, Aleksandra; Kazakova, Anna; Soldatkina, Olga; Kashpor, Svetlana; Semchenkova, Alexandra; Popov, Alexander; Novichkova, Galina; Olshanskaya, Yulia; Maschan, Alexey; Zerkalenkova, Elena

Novel SLFN14 mutation associated with macrothrombocytopenia in a patient with severe haemorrhagic syndrome

一例伴有严重出血综合征的患者出现巨血小板减少症,并发现一种新的SLFN14突变。

Polokhov, Dmitrii; Fedorova, Daria; Ignatova, Anastasiya; Ponomarenko, Evgeniya; Rashevskaya, Elena; Martyanov, Alexey; Podoplelova, Nadezhda; Aleksenko, Maxim; Mersiyanova, Irina; Seregina, Elena; Poletaev, Aleksandr; Truchina, Ekaterina; Raykina, Elena; Plyasunova, Svetlana; Novichkova, Galina; Zharkov, Pavel; Panteleev, Mikhail

Platelet functional abnormalities and clinical presentation in pediatric patients with germline RUNX1, ANKRD26, and ETV6 mutations

携带生殖系RUNX1、ANKRD26和ETV6突变的儿科患者的血小板功能异常和临床表现

Ovsyannikova, Galina S; Fedorova, Daria V; Tesakov, Ivan P; Martyanov, Alexey A; Ignatova, Anastasia A; Ponomarenko, Evgeniya A; Zharkov, Pavel A; Pavlova, Anna V; Raykina, Elena V; Maschan, Michael A; Panteleev, Mikhail A; Novichkova, Galina A; Sveshnikova, Anastasia N; Smetanina, Nataliya S