Zobrazeno 1 - 10
of 882
pro vyhledávání: '"Fakhro A"'
Autor:
Shana Jacob, Tala Abuarja, Rulan Shaath, Waseem Hasan, Saroja Balayya, Doua Abdelrahman, Khalid Almana, Hajira Afreen, Ahmad Hani, Michail Nomikos, Khalid Fakhro, Mohamed A. Elrayess, Sahar Isa Da’as
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)
Abstract To elucidate the lipidomic and metabolomic alterations associated with hypertrophic cardiomyopathy (HCM) pathogenesis, we utilized cmybpc3-/- zebrafish model. Fatty acid profiling revealed variability of 10 fatty acids profiles, with heteroz
Externí odkaz:
https://doaj.org/article/35c53de5da034cfcaea19dfec5df6e9b
Autor:
Niccolò Rossi, Najeeb Syed, Alessia Visconti, Elbay Aliyev, Sarah Berry, Mafalda Bourbon, Tim D. Spector, Pirro G. Hysi, Khalid A. Fakhro, Mario Falchi
Publikováno v:
npj Genomic Medicine, Vol 9, Iss 1, Pp 1-6 (2024)
Abstract Leveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholestero
Externí odkaz:
https://doaj.org/article/e527c5cc1efa4f1c83a245ba65311592
Publikováno v:
Journal of Translational Medicine, Vol 22, Iss 1, Pp 1-14 (2024)
Abstract The study of the functional genome in mice and humans has been instrumental for describing the conserved molecular mechanisms regulating human reproductive biology, and for defining the etiologies of monogenic fertility disorders. Infertilit
Externí odkaz:
https://doaj.org/article/e84c31b8e9b94a118b0d5aa7ab66d2f7
Autor:
Omayma Al-Saei, Samantha Malka, Nicholas Owen, Elbay Aliyev, Fazulur Rehaman Vempalli, Paulina Ocieczek, Bashayer Al-Khathlan, Genomics England Research Consortium, Khalid Fakhro, Mariya Moosajee
Publikováno v:
BMC Genomics, Vol 25, Iss 1, Pp 1-19 (2024)
Abstract Childhood glaucoma (CG) encompasses a heterogeneous group of genetic eye disorders that is responsible for approximately 5% of childhood blindness worldwide. Understanding the molecular aetiology is key to improving diagnosis, prognosis and
Externí odkaz:
https://doaj.org/article/e2c6b48b358d4b7280a344ea20c61379
Autor:
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
Publikováno v:
BMC Nephrology, Vol 25, Iss 1, Pp 1-7 (2024)
Abstract Background Renal tubular dysgenesis (RTD) is a severe disorder with poor prognosis significantly impacting the proximal tubules of the kidney while maintaining an anatomically normal gross structure. The genetic origin of RTD, involving vari
Externí odkaz:
https://doaj.org/article/de528bc7688d480ba9e4006bc299b114
Autor:
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, Nourhen Agrebi, Fatemeh Abbaszadeh, Ammira S. Al-Shabeeb Akil, Ramin Badii, Tawfeg Ben-Omran, Bernice Lo, The Qatar Genome Program Research Consortium, Younes Mokrab, Khalid A. Fakhro
Publikováno v:
Genome Medicine, Vol 16, Iss 1, Pp 1-17 (2024)
Abstract Background Genome sequencing of large biobanks from under-represented ancestries provides a valuable resource for the interrogation of Mendelian disease burden at world population level, complementing small-scale familial studies. Methods He
Externí odkaz:
https://doaj.org/article/b4266c219952427a95b95677aa94733a
Autor:
Abeer Farhan, MBBch, MRCSI, Abdulla Fakhro, MBBch, FACS, FRCI, Dalal Burshaid, MBBch, PRSB, PHOSB
Publikováno v:
Plastic and Reconstructive Surgery, Global Open, Vol 12, Iss 9, p e6150 (2024)
Background:. Primary cutaneous follicle center lymphoma (PCFCL) is a subtype of primary cutaneous B-cell lymphoma. It is exceedingly rare in the pediatric population, with less than two dozen cases documented in individuals younger than 20 years. The
Externí odkaz:
https://doaj.org/article/920b5a17ebb64a0782e13ad33d553441
Autor:
Sohail Aziz Paracha, Shoaib Nawaz, Muhammad Tahir Sarwar, Asmat Shaheen, Gohar Zaman, Jawad Ahmed, Fahim Shah, Sundus Khwaja, Abid Jan, Nida Khan, Mohammad Azhar Kamal, Qamre Alam, Safdar Abbas, Saman Farman, Ahmed Waqas, Afnan Alkathiri, Abdullah Hamadi, Federico Santoni, Naseeb Ullah, Bisma Khalid, Stylianos E. Antonarakis, Khalid A Fakhro, Muhammad Umair, Muhammad Ansar
Publikováno v:
Frontiers in Medicine, Vol 11 (2024)
ObjectiveThis study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs).MethodsWe conducted clinical, genetic, bioche
Externí odkaz:
https://doaj.org/article/da892fb22a4541a385dabfbb11685b3e
Publikováno v:
The Saudi Journal of Gastroenterology, Vol 5, Iss 3, Pp 129-133 (1999)
Lymphoid reaction to Helicobacter pylori (H. pylori ) infection varies from simple aggregates to primary gastric lymphoma. This study analyzes various lymphoid reaction to H. pylori infection among 102 patients with dyspepsia in Bahrain during 1994-1
Externí odkaz:
https://doaj.org/article/be64520648044563b7068d0ab89a0b7f
Autor:
Ismail, Said I., Al-Muftah, Wadha, Badji, Radja, Mbarek, Hamdi, Darwish, Dima, Fadl, Tasnim, Yasin, Heba, Ennaifar, Maryem, Abdellatif, Rania, Alkuwari, Fatima, Alvi, Muhammad, Al-Sarraj, Yasser, Saad, Chadi, Althani, Asmaa, Fethnou, Eleni, Qafoud, Fatima, Alkhayat, Eiman, Afifi, Nahla, Tomei, Sara, Liu, Wei, Lorenz, Stephan, Syed, Najeeb, Almabrazi, Hakeem, Vempalli, Fazulur Rehaman, Temanni, Ramzi, Saqri, Tariq Abu, Khatib, Mohammedhusen, Hamza, Mehshad, Zaid, Tariq Abu, El Khouly, Ahmed, Pathare, Tushar, Poolat, Shafeeq, Al-Ali, Rashid, Albagha, Omar, Al-Khodor, Souhaila, Alshafai, Mashael, Badii, Ramin, Chouchane, Lotfi, Estivill, Xavier, Fakhro, Khalid A., Mokrab, Younes, Puthen, Jithesh V., Suhre, Karsten, Tatari, Zohreh, Devadoss Gandhi, Geethanjali, Aliyev, Elbay, Al-Saei, Omayma, Al-Maraghi, Aljazi, Abdi, Mona, Krishnamoorthy, Navaneethakrishnan, Akil, Ammira A., Ben-Omran, Tawfeg
Publikováno v:
In Genetics in Medicine December 2024 26(12)