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Khalid A. Fakhro

sidra medicine

32H指数
151论文数
5.1K被引数
收录论文 63
发表时间
A Middle East collaborative for undiagnosed diseases中东未诊断疾病合作组织
err2026-09-18
err0
PREAI
errOmer S. Alkhnbashi; Hamad Ali; Almundher Al-Maawali; Naif A. M. Almontashiri; Uğur Özbek; Maha S. Zaki; Mouhammed Ali Ajlouny; Issa Abu-Dayyeh; Rami Abdel-Rahim Mahfouz; Abdullah M. Baghfar; Khalaf Hussein Gargary; Ali M. Batarfi; Barrak Alahmad; Abdullah Alibrahim; Dana Marafi; Hind Alsharhan; Salman Al Sabah; Oktay I. Kaplan; Fatma Al Jasmi; Majid Alfadhel; Bruno Reversade; Hilal A. Lashuel; Khalid Fakhro; Fowzan S. Alkuraya; Fahd Al-Mulla; Alawi Alsheikh-Ali; Ahmad Abou Tayoun
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A genomics health strategy for the Arabian Gulf阿拉伯湾的基因组健康战略
err2026-03-04
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PREAI
errHamad Ali; Barrak Alahmad; Abdullah Alibrahim; Dana Marafi; Hind Alsharhan; Salman Al Sabah; Almundher Al-Maawali; Khalid A. Fakhro; Hilal A. Lashuel; Fowzan S. Alkuraya; Omer S. Alkhnbashi; Alawi Alsheikh-Ali; Fahd Al-Mulla; Ahmad Abou Tayoun
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The biomedical landscape of genomic structural variation in the qatari population卡塔尔人群基因组结构变异的生物医药景观
err2026-01-13
err0
errOAAI
errElbay Aliyev; Najeeb Syed; Alessia Visconti; Taghi Aliyev; Aziz Belkadi; Mohammadmersad Ghorbani; Niccolò Rossi; Haroon Naeem; Geethanjali Devadoss Gandhi; Gaurav Thareja; Aljazi Al-Maraghi; Waleed Aamer; Amal Abdulsalam Ibrahim; Rulan Shaath; Farooq Omar Al-Ajli; Rozaimi Mohamad Razali; Fritz J. Sedlazeck; Sonia Davila; Ammira Akil; Karsten Suhre; Younes Mokrab; Mario Falchi; Khalid A. Fakhro
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Long-read sequencing identifies a novel de novo inversion in SMARCC2 in a pediatric patient with Coffin-siris syndrome 8: a case report长读测序鉴定出在患有科芬-西里斯综合征8型的儿科患者中的一种新型新生倒位突变位于SMARCC2基因:病例报告
err2025-11-25
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PREAI
errIbrahim, Amal Abdulsalam; Aamer, Waleed; Aliyev, Elbay; Al-Maraghi, Aljazi; Elhag, Saba F.; Abdi, Mona; Syed, Najeeb; Palaniswamy, Sasirekha; Akil, Ammira S. A.; Kamal, Madeeha; Fakhro, Khalid A.
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Plasma multi-omics and machine learning reveal predictive biomarkers for type 2 diabetes and retinopathy in Qatar biobank cohort血浆多组学与机器学习揭示卡塔尔生物银行队列中2型糖尿病和视网膜病变的预测生物标志物
err2025-10-24
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errOAAI
errIkhlak Ahmed; Ajaz A. Bhat; Sujitha Padma Jeya; Wilson K. M. Wong; Hana Q. Sadida; Mya Polkamp; Hrishikesh P. Hardikar; Jyothi Lakshmi; Sura Ahmed Hussain; Evonne Chin-Smith; Amaresh K. Ranjan; Mugdha V. Joglekar; Anandwardhan A. Hardikar; Khalid Fakhro; Ammira Al-Shabeeb Akil
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Genetic determinants of testicular sperm extraction outcomes: insights from a large multicentre study of men with non-obstructive azoospermiaRiera-Escamilla, A.; Arafa, M.M.; Farnetani, G.; Xavier, M.J.; Oud, M.S.; Majzoub, A.A.; Ramos, L.; Abrardo, C.; Spinelli, M.; Moreno-Mendoza, D.; 等. 非梗阻性无精子症患者睾丸精子提取术结局的遗传决定因素:一项大型多中心研究的见解。Hum. Reprod. Open 2025, 2025, hoaf049. [Google Scholar] [CrossRef]
err2025-08-29
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errOAAI
errAntoni Riera-Escamilla; Mohamed M Arafa; Ginevra Farnetani; Miguel J Xavier; Manon S Oud; Ahmad A Majzoub; Liliana Ramos; Chiara Abrardo; Matilde Spinelli; Daniel Moreno-Mendoza; Giuseppe Defazio; Elisabet Ars; Marc Pybus; Josvany R Sánchez Curbelo; Haitham T Elbardisi; Shoaib Nawaz; Najeeb Syed; Eduard Ruiz-Castané; Godfried W van der Heijden; Khalid A Fakhro; Joris A Veltman; Csilla Krausz
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Ritscher-Schinzel syndrome can be characterized as an endosomal recyclinopathyRitscher-Schinzel综合征可被表征为一种内体再循环障碍症。
err2025-07-02
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PREAI
errKohji Kato; Yosuke Nishio; Kirsty J. McMillan; Aljazi Al-Maraghi; Hester Y. Kroes; Mohamed S. Abdel-Hamid; Emma Jones; Shrestha Shaw; Aya Yoshida; Shiomi Otsuji; Yuka Murofushi; Waleed Aamer; Ajaz A. Bhat; Jehan AlRayahi; Ammira S. Al-Shabeeb Akil; Elbay Aliyev; Ellen van Binsbergen; Etienne J. Janssen; Kazi Mahnaz Mehrin; Hisashi Oishi; Ryosuke Kobayashi; Takuro Horii; Izuho Hatada; Akihiko Saito; Mitsuharu Hattori; Yoshihiko Kawano; Philip A. Lewis; Kate J. Heesom; Takeshi Takarada; Kazunobu Sawamoto; Masaki Matsushita; Tomoo Ogi; Rebeka Butkovic; Chris Danson; Kevin A. Wilkinson; Khalid A. Fakhro; Maha S. Zaki; Shinji Saitoh; Peter J. Cullen
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Unraveling molecular interconnections and identifying potential therapeutic targets of significance in obesity-cancer link阐明肥胖与癌症关联中的分子相互作用,并确定具有潜在意义的治疗靶点
err2025-02-01
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errOAAI
errAbdulla, Alanoud; Sadida, Hana Q.; Jerobin, Jayakumar; Elfaki, Imadeldin; Mir, Rashid; Mirza, Sameer; Singh, Mayank; Macha, Muzafar A.; Uddin, Shahab; Fakhro, Khalid; Bhat, Ajaz A.
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Deciphering metabolomics and lipidomics landscape in zebrafish hypertrophic cardiomyopathy model
err2024-09-19
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errJacob, Shana; Abuarja, Tala; Shaath, Rulan; Hasan, Waseem; Balayya, Saroja; Abdelrahman, Doua; Almana, Khalid; Afreen, Hajira; Hani, Ahmad; Nomikos, Michail; Fakhro, Khalid; Elrayess, Mohamed A.; Da'as, Sahar Isa
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The genetic cause of neurodevelopmental disorders in 30 consanguineous families
err2024-08-30
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errOAAI
errParacha, Sohail Aziz; Nawaz, Shoaib; Sarwar, Muhammad Tahir; Shaheen, Asmat; Zaman, Gohar; Ahmed, Jawad; Shah, Fahim; Khwaja, Sundus; Jan, Abid; Khan, Nida; Kamal, Mohammad Azhar; Alam, Qamre; Abbas, Safdar; Farman, Saman; Waqas, Ahmed; Alkathiri, Afnan; Hamadi, Abdullah; Santoni, Federico; Ullah, Naseeb; Khalid, Bisma; Antonarakis, Stylianos E.; Fakhro, Khalid A.; Umair, Muhammad; Ansar, Muhammad
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Conserved genes regulating human sex differentiation, gametogenesis and fertilization
err2024-05-19
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errOAAI
errFakhro, Khalid A.; Awwad, Johnny; Garibova, Suma; Saraiva, Luis R.; Avella, Matteo
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Increasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project
err2024-05-16
err1
errOAAI
errAl-Saei, Omayma; Malka, Samantha; Owen, Nicholas; Aliyev, Elbay; Vempalli, Fazulur Rehaman; Ocieczek, Paulina; Al-Khathlan, Bashayer; Fakhro, Khalid; Moosajee, Mariya
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Deciphering the complex interplay of obesity, epithelial barrier dysfunction, and tight junction remodeling: Unraveling potential therapeutic avenues
err2024-05-14
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errOAAI
errAlmarzooqi, Sara K.; Almarzooqi, Fajr; Sadida, Hana Q.; Jerobin, Jayakumar; Ahmed, Ikhlak; Abou-Samra, Abdul-Badi; Fakhro, Khalid A.; Dhawan, Punita; Bhat, Ajaz A.; Al-Shabeeb Akil, Ammira S.
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcificationsn末端乙酰化能力受损的双等位基因NAA60变体导致常染色体隐性遗传原发性家族性脑钙化
err2024-03-13
err7
errOAAI
errChelban, Viorica; Aksnes, Henriette; Maroofian, Reza; LaMonica, Lauren C.; Seabra, Luis; Siggervag, Anette; Devic, Perrine; Shamseldin, Hanan E.; Vandrovcova, Jana; Murphy, David; Richard, Anne-Claire; Quenez, Olivier; Bonnevalle, Antoine; Zanetti, M. Natalia; Kaiyrzhanov, Rauan; Salpietro, Vincenzo; Efthymiou, Stephanie; Schottlaender, Lucia V.; Morsy, Heba; Scardamaglia, Annarita; Tariq, Ambreen; Pagnamenta, Alistair T.; Pennavaria, Ajia; Krogstad, Liv S.; Bekkelund, Ase K.; Caiella, Alessia; Glomnes, Nina; Bronstad, Kirsten M.; Tury, Sandrine; De Luca, Andres Moreno; Boland-Auge, Anne; Olaso, Robert; Deleuze, Jean-Francois; Anheim, Mathieu; Cretin, Benjamin; Vona, Barbara; Alajlan, Fahad; Abdulwahab, Firdous; Battini, Jean-Luc; Ipek, Rojan; Bauer, Peter; Zifarelli, Giovanni; Gungor, Serdal; Kurul, Semra Hiz; Lochmuller, Hanns; Da'as, Sahar I.; Fakhro, Khalid A.; Gomez-Pascual, Alicia; Botia, Juan A.; Wood, Nicholas W.; Horvath, Rita; Ernst, Andreas M.; Rothman, James E.; McEntagart, Meriel; Crow, Yanick J.; Alkuraya, Fowzan S.; Nicolas, Gael; Arnesen, Thomas; Houlden, Henry
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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder
err2024-03-04
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errOAAI
errShaath, Rulan; Al-Maraghi, Aljazi; Ali, Haytham; AlRayahi, Jehan; Kennedy, Adam D.; DeBalsi, Karen L.; Hussein, Sura; Elbashir, Najwa; Padmajeya, Sujitha S.; Palaniswamy, Sasirekha; Elsea, Sarah H.; Akil, Ammira A.; Yousri, Noha A.; Fakhro, Khalid A.
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Validation of plasma protein glycation and oxidation biomarkers for the diagnosis of autism
err2023-12-22
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errOAAI
errAl-Saei, Aisha Nasser J. M.; Nour-Eldine, Wared; Rajpoot, Kashif; Arshad, Noman; Al-Shammari, Abeer R.; Kamal, Madeeha; Akil, Ammira Al-Shabeeb; Fakhro, Khalid A.; Thornalley, Paul J.; Rabbani, Naila
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Equity, diversity, and inclusion at the Global Alliance for Genomics and Health
err2023-10-01
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errOAAI
errSkantharajah, Neerjah; Baichoo, Shakuntala; Boughtwood, Tiffany F.; Casas-Silva, Esmeralda; Chandrasekharan, Subhashini; Dave, Sanjay M.; Fakhro, Khalid A.; de Vargas, Aida B. Falcon; Gayle, Sylvia S.; Gupta, Vivek K.; Hendricks-Sturrup, Rachele; Hobb, Ashley E.; Li, Stephanie; Llamas, Bastien; Lopez-Correa, Catalina; Machirori, Mavis; Melendez-Zajgla, Jorge; Millner, Mareike A.; Page, Angela J. H.; Pagilone, Laura D.; Raven-Adams, Maili C.; Smith, Lindsa; Thomas, Ericka M.; Kumthini, Judi; Corpas, Manuel
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