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

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders

ACTL6B相关常染色体隐性和显性遗传性脑发育障碍的临床和遗传学特征

Cali, Elisa; Quirin, Tania; Rocca, Clarissa; Efthymiou, Stephanie; Riva, Antonella; Marafi, Dana; Zaki, Maha S; Suri, Mohnish; Dominguez, Roberto; Elbendary, Hasnaa M; Alavi, Shahryar; Abdel-Hamid, Mohamed S; Morsy, Heba; Mau-Them, Frederic Tran; Nizon, Mathilde; Tesner, Pavel; Ryba, Lukáš; Zafar, Faisal; Rana, Nuzhat; Saadi, Nebal W; Firoozfar, Zahra; Gencpinar, Pinar; Unay, Bulent; Ustun, Canan; Bruel, Ange-Line; Coubes, Christine; Stefanich, Jennifer; Sezer, Ozlem; Agolini, Emanuele; Novelli, Antonio; Vasco, Gessica; Lettori, Donatella; Milh, Mathieu; Villard, Laurent; Zeidler, Shimriet; Opperman, Henry; Strehlow, Vincent; Issa, Mahmoud Y; El Khassab, Hebatallah; Chand, Prem; Ibrahim, Shahnaz; Rashidi-Nezhad, Ali; Miryounesi, Mohammad; Larki, Pegah; Morrison, Jennifer; Cristian, Ingrid; Thiffault, Isabelle; Bertsch, Nicole L; Noh, Grace J; Pappas, John; Moran, Ellen; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Hosseini, Susan; Abbaszadegan, Mohammad Reza; Caumes, Roseline; Vissers, Lisenka E L M; Neshatdoust, Maedeh; Montazer Zohour, Mostafa; El Fahime, Elmostafa; Canavati, Christina; Kamal, Lara; Kanaan, Moien; Askander, Omar; Voinova, Victoria; Levchenko, Olga; Haider, Shahzhad; Halbach, Sara S; Elias Maia, Rayana; Mansoor, Salehi; Jain, Vivek; Tawde, Sanjukta; Challa, Viveka Santhosh R; Gowda, Vykuntaraju K; Srinivasan, Varunvenkat M; Victor, Lucas Alves; Pinero-Banos, Benito; Hague, Jennifer; ElAwady, Heba Ahmed; Maria de Miranda Henriques-Souza, Adelia; Cheema, Huma Arshad; Anjum, Muhammad Nadeem; Idkaidak, Sara; Alqarajeh, Firas; Atawneh, Osama; Mor-Shaked, Hagar; Harel, Tamar; Zifarelli, Giovanni; Bauer, Peter; Kok, Fernando; Kitajima, Joao Paulo; Monteiro, Fabiola; Josahkian, Juliana; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothe; Murphy, David; Neul, Jeffrey L; Mullegama, Sureni V; Begtrup, Amber; Herman, Isabella; Mitani, Tadahiro; Posey, Jennifer E; Tay, Chee Geap; Javed, Iram; Carr, Lucinda; Kanani, Farah; Beecroft, Fiona; Hane, Lee; Abdelkreem, Elsayed; Macek, Milan; Bispo, Luciana; Elmaksoud, Marwa Abd; Hashemi-Gorji, Farzad; Pehlivan, Davut; Amor, David J; Jamra, Rami Abou; Chung, Wendy K; Ghayoor Karimiani, Eshan; Campeau, Philippe M; Alkuraya, Fowzan S; Pagnamenta, Alistair T; Gleeson, Joseph G; Lupski, James R; Striano, Pasquale; Moreno-De-Luca, Andres; Lafontaine, Denis L J; Houlden, Henry; Maroofian, Reza

The Promise and Pitfalls of AAV-Mediated Gene Therapy for Duchenne Muscular Dystrophy

AAV介导的基因疗法治疗杜氏肌营养不良症的前景与挑战

Kurshakova, Elizaveta V; Levchenko, Olga A; Smirnikhina, Svetlana A; Lavrov, Alexander V

The Missing Piece of the Puzzle: Unveiling the Role of PTPN11 Gene in Multiple Osteochondromas in a Large Cohort Study.

拼图缺失的一环:一项大型队列研究揭示了 PTPN11 基因在多发性骨软骨瘤中的作用

Borovikov Artem, Galeeva Nailya, Marakhonov Andrey, Murtazina Aysylu, Kadnikova Varvara, Davydenko Kseniya, Orlova Anna, Sparber Peter, Markova Tatiana, Orlova Maria, Osipova Darya, Nagornova Tatyana, Semenova Natalia, Levchenko Olga, Filatova Alexandra, Sharova Margarita, Vasiluev Peter, Kanivets Ilya, Pyankov Denis, Sharkov Artem, Udalova Vasilisa, Kenis Vladimir, Nikitina Natalia, Sumina Maria, Zherdev Konstantin, Petel'guzov Aleksandr, Chelpachenko Oleg, Zubkov Pavel, Dan Ivan, Snetkov Andrey, Akinshina Alexandra, Buklemishev Yury, Ryzhkova Oxana, Tabakov Vyacheslav, Zakharova Ekaterina, Korostelev Sergey, Zinchenko Rena, Skoblov Mikhail, Polyakov Alexander, Dadali Elena, Kutsev Sergey, Shchagina Olga

Clinical Case of Mild Tatton-Brown-Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene

由DNMT3A基因无义变异引起的轻型Tatton-Brown-Rahman综合征临床病例报告

Bostanova, Fatima; Levchenko, Olga; Sharova, Margarita; Semenova, Natalia

Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report

SNX14基因深内含子纯合变异导致常染色体隐性遗传性脊髓小脑性共济失调20型:病例报告

Levchenko, Olga; Filatova, Alexandra; Mishina, Irina; Antonenko, Aleksey; Skoblov, Mikhail

Complex Diagnostics of Non-Specific Intellectual Developmental Disorder

非特异性智力发育障碍的复杂诊断

Levchenko, Olga; Dadali, Elena; Bessonova, Ludmila; Demina, Nina; Rudenskaya, Galina; Matyushchenko, Galina; Markova, Tatiana; Anisimova, Inga; Semenova, Natalia; Shchagina, Olga; Ryzhkova, Oxana; Zinchenko, Rena; Galkina, Varvara; Voinova, Victoria; Nagieva, Sabina; Lavrov, Alexander