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

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

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

扩展 PPP1R21 相关神经发育障碍的表型

Almannai, Mohammed; Marafi, Dana; Zaki, Maha S; Maroofian, Reza; Efthymiou, Stephanie; Saadi, Nebal Waill; Filimban, Bilal; Dafsari, Hormos Salimi; Rahman, Fatima; Maqbool, Shazia; Faqeih, Eissa; Al Mutairi, Fuad; Alsharhan, Hind; Abdelaty, Omar; Bin-Hasan, Saadoun; Duan, Ruizhi; Noureldeen, Mahmoud M; Alqattan, Alaa; Houlden, Henry; Hunter, Jill V; Posey, Jennifer E; Lupski, James R; El-Hattab, Ayman W

Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders

MED27双等位基因变异会导致不同程度的脑桥-小脑-晶状体变性,并伴有运动障碍。

Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; Sadeghian, Saeid; Saadi, Saadia Maryam; Abdullah, Uzma; Karimiani, Ehsan Ghayoor; Efthymiou, Stephanie; Yeşil, Gözde; Alavi, Shahryar; Al Shamsi, Aisha M; Tajsharghi, Homa; Abdel-Hamid, Mohamed S; Saadi, Nebal Waill; Al Mutairi, Fuad; Alabdi, Lama; Beetz, Christian; Ali, Zafar; Toosi, Mehran Beiraghi; Rudnik-Schöneborn, Sabine; Babaei, Meisam; Isohanni, Pirjo; Muhammad, Jameel; Khan, Sheraz; Al Shalan, Maha; Hickey, Scott E; Marom, Daphna; Elhanan, Emil; Kurian, Manju A; Marafi, Dana; Saberi, Alihossein; Hamid, Mohammad; Spaull, Robert; Meng, Linyan; Lalani, Seema; Maqbool, Shazia; Rahman, Fatima; Seeger, Jürgen; Palculict, Timothy Blake; Lau, Tracy; Murphy, David; Mencacci, Niccolo Emanuele; Steindl, Katharina; Begemann, Anais; Rauch, Anita; Akbas, Sinan; Aslanger, Ayça Dilruba; Salpietro, Vincenzo; Yousaf, Hammad; Ben-Shachar, Shay; Ejeskär, Katarina; Al Aqeel, Aida I; High, Frances A; Armstrong-Javors, Amy E; Zahraei, Seyed Mohammadsaleh; Seifi, Tahereh; Zeighami, Jawaher; Shariati, Gholamreza; Sedaghat, Alireza; Asl, Samaneh Noroozi; Shahrooei, Mohmmad; Zifarelli, Giovanni; Burglen, Lydie; Ravelli, Claudia; Zschocke, Johannes; Schatz, Ulrich A; Ghavideldarestani, Maryam; Kamel, Walaa A; Van Esch, Hilde; Hackenberg, Annette; Taylor, Jenny C; Al-Gazali, Lihadh; Bauer, Peter; Gleeson, Joseph J; Alkuraya, Fowzan Sami; Lupski, James R; Galehdari, Hamid; Azizimalamiri, Reza; Chung, Wendy K; Baig, Shahid Mahmood; Houlden, Henry; Severino, Mariasavina

A reverse genetics and genomics approach to gene paralog function and disease: Myokymia and the juxtaparanode

反向遗传学和基因组学方法研究基因旁系同源物功能和疾病:肌束和旁系近端

Dana Marafi, Nina Kozar, Ruizhi Duan, Stephen Bradley, Kenji Yokochi, Fuad Al Mutairi, Nebal Waill Saadi, Sandra Whalen, Theresa Brunet, Urania Kotzaeridou, Daniela Choukair, Boris Keren, Caroline Nava, Mitsuhiro Kato, Hiroshi Arai, Tawfiq Froukh, Eissa Ali Faqeih, Ali M AlAsmari, Mohammed M Saleh, 

The ancient koji mold (Aspergillus oryzae) as a modern biotechnological tool

古老的米曲霉(Aspergillus oryzae)作为一种现代生物技术工具

Daba, Ghoson M; Mostafa, Faten A; Elkhateeb, Waill A

A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy

伊拉克一个患有癫痫性脑病的家族中发现了一种由Alu/Alu介导的重排产生的SLC13A5基因全缺失的新型纯合子突变。

Duan, Ruizhi; Saadi, Nebal Waill; Grochowski, Christopher M; Bhadila, Ghalia; Faridoun, Afnan; Mitani, Tadahiro; Du, Haowei; Fatih, Jawid M; Jhangiani, Shalini N; Akdemir, Zeynep C; Gibbs, Richard A; Pehlivan, Davut; Posey, Jennifer E; Marafi, Dana; Lupski, James R

Pitfalls in the diagnosis of Gaucher disease in Iraq: A diagnostic experience from a developing country

伊拉克戈谢病诊断中的陷阱:来自发展中国家的诊断经验

Thejeal, Rabab Farhan; Wahhab, Saja Baheer Abdul; Saadi, Nebal Waill

In Vitro Antigenotoxic, Antihelminthic and Antioxidant Potentials Based on the Extracted Metabolites from Lichen, Candelariella vitellina

基于从地衣 Candelariella vitellina 中提取的代谢物的体外抗基因毒性、驱虫和抗氧化潜力

El-Garawani, Islam; Emam, Mahmoud; Elkhateeb, Waill; El-Seedi, Hesham; Khalifa, Shaden; Oshiba, Salwa; Abou-Ghanima, Shaimaa; Daba, Ghoson