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排名必读论文期刊顶会热点AI 简史溯源树小脉星探人才迁徙塔尖人才国防情报追踪开源工具智慧手语
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论文共 97 篇作者统计合作学者相似作者

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Integrating Genome Sequencing and Untargeted Metabolomics in Monozygotic Twins with a Rare Complex Neurological Disorder
Rulan Shaath,Aljazi Al-Maraghi, Haytham Ali,Jehan AlRayahi,Adam D. Kennedy, Karen L. DeBalsi, Sura Hussein, Najwa Elbashir,Sujitha S. Padmajeya, Sasirekha Palaniswamy,Sarah H. Elsea,Ammira A. Akil,
METABOLITESno. 3 (2024): 152
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Deciphering the complex interplay of obesity, epithelial barrier dysfunction, and tight junction remodeling: Unraveling potential therapeutic avenues
Sara K AlMarzooqi, Fajr Almarzooqi, Hana Q Sadida,Jayakumar Jerobin,Ikhlak Ahmed, Abdul-Badi Abou-Samra,Khalid A Fakhro,Punita Dhawan, Ajaz A Bhat,Ammira S Al-Shabeeb Akil
Obesity reviews : an official journal of the International Association for the Study of Obesitypp.e13766-e13766, (2024)
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A loss-of-function AGTR1 variant in a critically-ill infant with renal tubular dysgenesis: case presentation and literature review
Aljazi Al-Maraghi, Waleed Aamer, Mubarak Ziab, Elbay Aliyev, Najwa Elbashir, Sura Hussein, Sasirekha Palaniswamy, Dhullipala Anand, Donald R. Love, Adrian Charles, Ammira A.S.Akil,Khalid A. Fakhro
BMC Nephrology（2024）
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Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications
Viorica Chelban,Henriette Aksnes,Reza Maroofian,Lauren C. LaMonica, Luis Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin,Jana Vandrovcova,David Murphy, Anne-Claire Richard, Olivier Quenez,
Nature Communicationsno. 1 (2024): 1-20
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Burden of Mendelian disorders in a large Middle Eastern biobank
Waleed Aamer, Aljazi Al-Maraghi, Najeeb Syed, Geethanjali Devadoss Gandhi, Elbay Aliyev, Alya A. Al-Kurbi, Omayma Al-Saei, Muhammad Kohailan, Navaneethakrishnan Krishnamoorthy, Sasirekha Palaniswamy, Khulod Al-Malki, Saleha Abbasi,
Genome Medicine（2024）
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P026: The genetic spectrum of treatable inherited metabolic disorders identified in a large Middle Eastern biobank
Geethanjali Devadoss Gandhi, Najeeb Syed, Fazulur Vempalli,Mona Abdi, Elbay Aliyev, Navaneethakrishnan Krishnamoorthy,Chadi Saad,Hamdi Mbarek,Ramin Badii, Qatar Genome Program Research Consortium, Ammira Akil,Tawfeg Ben-Omran,
Genetics in Medicine Open (2024): 100903
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Genetic background of primary and familial HLH in Qatar: registry data and population study
Elkhansa Elgaali,Massimo Mezzavilla,Ikhlak Ahmed, Mohammed Elanbari, Aesha Ali, Ghada Abdelaziz,Khalid A. Fakhro,Ayman Saleh,Tawfeg Ben-Omran,Tawfeg Ben-Omran, Naima Almulla,Chiara Cugno,
Frontiers in Pediatrics (2024)
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