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

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy

MDGA2纯合功能缺失变异会导致发育性和癫痫性脑病。

Morsy, Heba; Kim, Hyeonho; Jang, Gyubin; Zaki, Maha S; Severino, Mariasavina; Abdelrazek, Ibrahim M; Hussien, Haytham; Self, Eleanor; Albaradie, Raidah Saleem; Bakur, Khadijah; Firoozfar, Zahra; Efthymiou, Stephanie; Noureldeen, Mahmoud M; Nabil, Amira; Alvi, Javeria Raza; Molavi, Fateme; Alavi, Shahryar; Alibakhshi, Reza; Topcu, Vehap; Mancilar, Hanifenur; Uctepe, Eyyup; Yesilyurt, Ahmet; Aldhalaan, Hesham; Showki Tous, Ehab Salah; Alhaddad, Bader; Elbendary, Hasnaa M; Scardamaglia, Annarita; Murphy, David; Yépez, Vicente A; Gagneur, Julien; Omar, Tarek I; Abd Elmaksoud, Marwa; Vandrovocova, Jana; Abdalla, Ebtessam; Reilly, Mary M; Sultan, Tipu; Alkuraya, Fowzan S; Gleeson, Joseph G; Um, Ji Won; Houlden, Henry; Ko, Jaewon; Maroofian, Reza

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

Unraveling undiagnosed rare disease cases by HiFi long-read genome sequencing

利用高保真长读长基因组测序揭示未确诊的罕见病病例

Steyaert, Wouter; Sagath, Lydia; Demidov, German; Yépez, Vicente A; Esteve-Codina, Anna; Gagneur, Julien; Ellwanger, Kornelia; Derks, Ronny; Weiss, Marjan; den Ouden, Amber; van den Heuvel, Simone; Swinkels, Hilde; Zomer, Nick; Steehouwer, Marloes; O'Gorman, Luke; Astuti, Galuh; Neveling, Kornelia; Schüle, Rebecca; Xu, Jishu; Synofzik, Matthis; Beijer, Danique; Hengel, Holger; Schöls, Ludger; Claeys, Kristl G; Baets, Jonathan; Van de Vondel, Liedewei; Ferlini, Alessandra; Selvatici, Rita; Morsy, Heba; Saeed Abd Elmaksoud, Marwa; Straub, Volker; Müller, Juliane; Pini, Veronica; Perry, Luke; Sarkozy, Anna; Zaharieva, Irina; Muntoni, Francesco; Bugiardini, Enrico; Polavarapu, Kiran; Horvath, Rita; Reid, Evan; Lochmüller, Hanns; Spinazzi, Marco; Savarese, Marco; Matalonga, Leslie; Laurie, Steven; Brunner, Han G; Graessner, Holm; Beltran, Sergi; Ossowski, Stephan; Vissers, Lisenka E L M; Gilissen, Christian; Hoischen, Alexander

Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases.

SLC31A1相关发育性和癫痫性脑病的临床和分子特征:来自13个新病例的见解。

Juliá-Palacios Natalia, Muñoz-Pujol Gerard, Maroofian Reza, Bertoli-Avella Aida M, Gómez-Chiari Marta, Muchart-López Jordi, Paredes-Fuentes Abraham J, O'Callaghan Mar, Machado-Casas Irene S, Cristian Ingrid, Morrison Jennifer, Garcia-Cazorla Angels, Codina Anna, Miryounesi Mohammad, Zonic Emir, Bauer Peter, Cheema Huma, Anjum Muhammad Nadeem, Al-Sannaa Nouriya, Abd Elmaksoud Marwa, Ababneh Faroug, Alijanpour Sahar, Tonekaboni Seyed Hassan, Fayazi Afshin, Urbaniak Maria, Barba Uxía, Hoenicka Janet, Palau Francesc, Houlden Henry, Ortigoza-Escobar Juan Darío, Ribes Antonia, Santos-Ocaña Carlos, Tyler Millie, Gaffney Patrick, Carroll Christopher J, Tort Frederic, Wierenga Klaas J, Webb Bryn D, Artuch Rafael, Baide-Mairena Heidy, Urreizti Roser

24-epibrassinosteroid and jasmine oil improve vegetative growth and productivity of Flame Seedless grapevines under abiotic stresses

24-表油菜素甾醇和茉莉花油可改善无籽火焰葡萄在非生物胁迫下的营养生长和产量。

Alebidi, Abdullah; Elaidy, Ahmed A; Abd El-Khalek, Ahmed F; Abd Elmaksoud, Magda M; Elmenofy, Hayam M; Elzainy, Ahmed M; Rihan, Hail Z; Abdel-Sattar, Mahmoud

Cool baby oil for pruritus and sleep quality among uremic patients: a nurse-led randomized controlled trial

清凉婴儿油对尿毒症患者瘙痒和睡眠质量的影响:一项由护士主导的随机对照试验

Asal, Maha Gamal Ramadan; El-Deeb, Hoda Abdou Abd El-Monem; Amer, Mona Abd Elmaksoud; Hawash, Mervat Abdel Hamid

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

翻译GTP酶GTPBP1和GTPBP2的双等位基因变异会导致一种独特的、相同的神经发育综合征。

Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G; Abdel-Hamid, Mohamed S; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y; Elbendary, Hasnaa M; Rafat, Karima; Marinakis, Nikolaos M; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Bertoli-Avella, Aida; Pagnamenta, Alistair T; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K; Green, Rachel; Alkuraya, Fowzan S; Jepson, James E C; Houlden, Henry

A homozygous nonsense variant in the alternatively spliced VLDLR exon 4 causes a neurodevelopmental disorder without features of VLDLR cerebellar hypoplasia

VLDLR基因第4外显子选择性剪接中的纯合无义变异会导致神经发育障碍,但不具有VLDLR小脑发育不全的特征。

Holling, Tess; Abdelrazek, Ibrahim M; Elhady, Ghada M; Abd Elmaksoud, Marwa; Ryu, Seung Woo; Abdalla, Ebtesam; Kutsche, Kerstin

Effect of Nk-lysin peptides on bacterial growth, MIC, antimicrobial resistance, and viral activities

Nk-溶菌肽对细菌生长、最小抑菌浓度、抗菌素耐药性和病毒活性的影响

Yacoub, Haitham A; Mahmoud, Maged Mostafa; Al-Hejin, Ahmed M; Abujamel, Turki S; Tabrez, Shams; Abd-Elmaksoud, Sherif

Melissa officinalis extract palliates redox imbalance and inflammation associated with hyperthyroidism-induced liver damage by regulating Nrf-2/ Keap-1 gene expression in γ-irradiated rats

香蜂草提取物通过调节 γ 射线照射大鼠的 Nrf-2/Keap-1 基因表达来缓解甲状腺功能亢进引起的肝损伤相关的氧化还原失衡和炎症

Ragaa Sm Kawara, Fatma Sm Moawed, Yakout Elsenosi, Hussein Abd Elmaksoud, Esraa S A Ahmed, Omayma Ar Abo-Zaid