Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Malak, Alghamdi"'
Autor:
Șenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, Azza Althagafi, Malak Alghamdi, Robert Hoehndorf
Publikováno v:
BMC Bioinformatics, Vol 24, Iss 1, Pp 1-17 (2023)
Abstract Background Identifying variants associated with diseases is a challenging task in medical genetics research. Current studies that prioritize variants within individual genomes generally rely on known variants, evidence from literature and ge
Externí odkaz:
https://doaj.org/article/59a80e3720914f1681c37b06d02c4d2d
Autor:
Fahad A. Bashiri, Rawan AlSheikh, Muddathir H. Hamad, Hamad Alsheikh, Rana Abdullah Alsheikh, Amal Kentab, Najd AlTheeb, Malak Alghamdi
Publikováno v:
Children, Vol 10, Iss 8, p 1334 (2023)
Background: Despite the high consanguinity rates, data on genetic epilepsy in Saudi Arabia is limited. The objective of the current study was to characterize genetic mutations associated with epilepsy in pediatric patients and describe their phenotyp
Externí odkaz:
https://doaj.org/article/680062900ff24d18a657b938f924b3be
Publikováno v:
Nutrients, Vol 15, Iss 1, p 123 (2022)
Modern lifestyles deviated considerably from the ancestral routines towards major shifts in diets and increased sedentarism. The trace elements status of the human body is no longer adequately supported by micronutrient-inferior farmed meats and crop
Externí odkaz:
https://doaj.org/article/30e75f9cbc804d4089f81dd490563d05
Autor:
Majid Alfadhel, Mohammed Almuqbil, Fuad Al Mutairi, Muhammad Umair, Mohammed Almannai, Malak Alghamdi, Hamad Althiyab, Rayyan Albarakati, Fahad A. Bashiri, Walaa Alshuaibi, Duaa Ba-Armah, Mohammed A. Saleh, Ali Al-Asmari, Eissa Faqeih, Waleed Altuwaijri, Ahmed Al-Rumayyan, Mohammed Ali Balwi, Faroug Ababneh, Abdulrahman Faiz Alswaid, Wafaa M. Eyaid, Naif A. M. Almontashiri, Amal Alhashem, Khalid Hundallah, Aida Bertoli-Avella, Peter Bauer, Christian Beetz, Muhammad Talal Alrifai, Ahmed Alfares, Brahim Tabarki
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Leukodystrophies (LDs) are inherited heterogeneous conditions that affect the central nervous system with or without peripheral nerve involvement. They are individually rare, but collectively, they are common. Thirty disorders were includ
Externí odkaz:
https://doaj.org/article/16784d501eb142d69ee3665c6c73dd51
Autor:
Malak Alghamdi, Taghreed R. Alhumsi, Ikhlass Altweijri, Waleed H. Alkhamis, Omar Barasain, Kelly J. Cardona-Londoño, Reshmi Ramakrishnan, Francisco J. Guzmán-Vega, Stefan T. Arold, Ghaida Ali, Nouran Adly, Hebatallah Ali, Ahmed Basudan, Muhammed A. Bakhrebah
Publikováno v:
Frontiers in Pediatrics, Vol 9 (2021)
Background: Craniosynostosis (CS) is defined as pre-mature fusion of one or more of the cranial sutures. CS is classified surgically as either simple or complex based on the number of cranial sutures involved. CS can also be classified genetically as
Externí odkaz:
https://doaj.org/article/5a355b3776074d378ef25f323f144fa1
Autor:
Malak Alghamdi, Khalid A. Alhasan, Areej Taha Elawad, Suha Salim, Marwa Abdelhakim, Marwan Nashabat, Rupesh Raina, Jameela Kari, Majid Alfadhel
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Cystinuria is an inborn error of metabolism that manifests with renal stones due to defective renal epithelial cell transport of cystine which resulted from pathogenic variants in the SLC3A1 and/or SLC7A9 genes. Among nephrolithiasis dise
Externí odkaz:
https://doaj.org/article/33728780016241f29ec5b9ee1dab7a2f
Autor:
Wael, Alqarawi, Abdulelah, Alsaeed, Malak, Alghamdi, Ahmed, Hersi, Tarek, Kashour, Khaldoon, Aljerian
Publikováno v:
Journal of the Saudi Heart Association. 34:142-147
Sudden unexplained death (SUD) is a sudden, unexpected, and unexplained death in an individual older than 1 year. It is one of the most devastating and tragic events to families and the community at large, particularly when it happens at a young age.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1f30707faf392a9d24d4477b062c93e7
https://doi.org/10.37616/2212-5043.1310
https://doi.org/10.37616/2212-5043.1310
Autor:
Malak Almutairi, Sarah Aljumah, Norah Alamri, Abdulaziz Almehmadi, Omar Alsaedi, Raad Alharbi, Ahmed Alshareef, Shakr Alwani, Turki Alharbi, Bader Alallah, Abdulaziz Baghlaf, Malak ALGhamdi, Maryam Fairag
Publikováno v:
Journal of Pharmaceutical Research International. :225-232
Introduction: Family planning importance is increasing progressively and is regarded as an essential part in every couple’s life. Family planning has a lot of benefits for the whole family as it provides a better control over the period between eac
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f11f17797b843fc3622d80d2892d5a1b
https://doi.org/10.9734/jpri/2021/v33i58a34110
https://doi.org/10.9734/jpri/2021/v33i58a34110
Publikováno v:
JIMD Reports, Vol 62, Iss 1, Pp 91-96 (2021)
JIMD Reports
JIMD Reports
Succinyl‐CoA:3‐ketoacid CoA transferase (SCOT) deficiency is an inherited metabolic disease caused by mutated OXCT1 gene resulting in recurrent ketoacidosis. Analysis of longitudinal data in such an ultra‐rare disease is warranted to delineate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6409b7597e1c9be69bf85281b4fcfd4f
https://doi.org/10.1002/jmd2.12248
https://doi.org/10.1002/jmd2.12248
Autor:
Brahim Tabarki, Malak Alghamdi, Fuad Al Mutairi, Arndt Rolfs, Zuhair N. Al-Hassnan, Najim Ameziane, Aida M. Bertoli-Avella, Abdulrahman Alswaid, Anika Leubauer, Huma Arshad Cheema, Fowzan S. Alkuraya, Suliman Khan, Mohammed AlBalwi, Lihadh Al-Gazali, Oana Moldovan, Wafaa Eyaid, Ahmed Alfares, Vasiliki Karageorgou, Nouriya Al-Sannaa, Alize Urzi, Patrícia Dias, Majid Alfadhel, Amal Alhashem, Nadia Al Hashmi, Krishna Kumar Kandaswamy, Kornelia Tripolszki, Peter Bauer, Fatemeh Hadipour, Irina Hüning, Ruslan Al-Ali, Maha S. Zaki, Maria Eugenia Rocha, Natalia Ordonez-Herrera, Zahra Hadipour, Aisha M. Al-Shamsi, Christian Beetz, Ronja Hotakainen
Publikováno v:
Genetics in Medicine
Purpose Within this study, we aimed to discover novel gene–disease associations in patients with no genetic diagnosis after exome/genome sequencing (ES/GS). Methods We followed two approaches: (1) a patient-centered approach, which after routine di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5d4b62d3053eb8cc2a55af978d72b485
https://doi.org/10.1038/s41436-021-01159-0
https://doi.org/10.1038/s41436-021-01159-0