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

Neurological manifestations and genotype-phenotype correlations in NDUFAF6-associated mitochondrial disease.

NDUFAF6 相关线粒体疾病的神经系统表现和基因型-表型相关性。

Torraco Alessandra, Alston Charlotte L, Barcia Giulia, Verrigni Daniela, Rizza Teresa, Di Nottia Michela, Altobelli Anastasia, Martinelli Diego, Diodato Daria, Efthymiou Stephanie, Kose Melis, Kriouile Yamna, Lim Albert Z, Morlino Silvia, Siri Barbara, Saadi Nebal Waill, Novelli Antonio, Houlden Henry, Dionisi-Vici Carlo, McFarland Robert, Rötig Agnès, Bertini Enrico, Taylor Robert W, Carrozzo Rosalba

Unveiling alpha-mannosidosis in Iraqi children: A series of clinically and genetically characterized cases with novel MAN2B1 variant

揭示伊拉克儿童中的α-甘露糖苷酶缺乏症:一系列具有新型MAN2B1变异的临床和基因特征明确的病例

Al Tai, Mays Riyadh; Saadi, Nebal Waill; Alothman, Marwa Sabah; Ahmed, Ikhlas Ali; Arif, Hala Sameh; Abdulwahhab, Saja Baheer

Beyond models: a paradigm shift toward human-centered AI system design

超越模型:向以人为中心的AI系统设计范式转变

Abu Hussein, Nebal S; Del Pillar Arias, Maria; Marshall, Dominic C; Mullins, Cathy; Mwavu, Rogers; Oliver, Steven; Sadrolashrafi, Mehrnaz; Sim, Dayeon; Komorowski, Matthieu

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2 相关神经发育障碍:来自患者和非洲爪蟾细胞模型的数据

Houdayer Clara, Phillips A Marie, Chabbert Marie, Bourreau Jennifer, Maroofian Reza, Houlden Henry, Richards Kay, Saadi Nebal Waill, Dad'ová Eliška, Van Bogaert Patrick, Rupin Mailys, Keren Boris, Charles Perrine, Smol Thomas, Riquet Audrey, Pais Lynn, O'Donnell-Luria Anne, VanNoy Grace E, Bayat Allan, Møller Rikke S, Olofsson Kern, Jamra Rami Abou, Syrbe Steffen, Dasouki Majed, Seaver Laurie H, Sullivan Jennifer A, Shashi Vandana, Alkuraya Fowzan S, Poss Alexis F, Spence J Edward, Schnur Rhonda E, Forster Ian C, Mckenzie Chaseley E, Simons Cas, Wang Min, Snell Penny, Kothur Kavitha, Buckley Michael, Roscioli Tony, Elserafy Noha, Dauriat Benjamin, Procaccio Vincent, Henrion Daniel, Lenaers Guy, Colin Estelle, Verbeek Nienke E, Van Gassen Koen L, Legendre Claire, Bonneau Dominique, Reid Christopher A, Howell Katherine B, Ziegler Alban, Legros Christian

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

Keratinocytes as active regulators of cutaneous and mucosal immunity: a systematic review across inflammatory epithelial disorders

角质形成细胞作为皮肤和黏膜免疫的活性调节因子:炎症性上皮疾病的系统性综述

Klimitz, Felix J; Shen, Yizhuo; Repetto, Federico; Brown, Stav; Knoedler, Leonard; Ko, Christine J; Abu Hussein, Nebal; Crisler, William J; Adams, Taylor; Kaminski, Naftali; Lian, Christine G; Murphy, George F; Hsia, Henry C; Pomahac, Bohdan; Kauke-Navarro, Martin

In silico nephroprotective evaluation of microbial biotransformed metabolites from Aframomum melegueta

利用计算机模拟方法评价非洲姜(Aframomum melegueta)微生物转化代谢产物的肾脏保护作用

Abdou, Rabab Mahrous; El-Dine, Riham Salah; Samir, Reham; El-Tanbouly, Nebal Darwish; El-Sayed, Aly Mohamed

Epigenetic age acceleration in idiopathic pulmonary fibrosis revealed by DNA methylation clocks

DNA甲基化时钟揭示特发性肺纤维化中的表观遗传年龄加速

Kurbanov, Daniel B; Ahangari, Farida; Adams, Taylor; De Man, Ruben; Tang, Jessica; Carlon, Marianne; Abu Hussein, Nebal; Cortesi, Emmanuela; Zapata, Marta; De Sadelaar, Laurens; Wuyts, Wim; Vanaudenaerde, Bart; Kaminski, Naftali; McDonough, John E

Potential source of bias in AI models: lactate measurement in the ICU in sepsis patients as a template

人工智能模型中潜在的偏差来源:以重症监护室脓毒症患者的乳酸测量为模板

Pradhan, Pratiksha; Haug, Fredrik Willumsen; Abu Hussein, Nebal S; Moukheiber, Dana; Moukheiber, Lama; Moukheiber, Mira; Moukheiber, Sulaiman; Weishaupt, Luca Leon; Ellen, Jacob G; D'Couto, Helen; Williams, Ishan C; Celi, Leo Anthony; Matos, Joao; Struja, Tristan

A study of Iraqi patients with homocysteine remethylation disorders in a tertiary pediatric centre

一项针对伊拉克三级儿科中心同型半胱氨酸再甲基化障碍患者的研究

Al-Tai, Mays R; Kareem, Adel A; Saadi, Nebal W; Omran, Tawfig Ben; Abdul Majeed, Ban A; Ibrahim, Ibrahim F; Alattar, Lamia A