Zobrazeno 1 - 10
of 32
pro vyhledávání: '"Lamia Alsubaie"'
Autor:
Balsam AlMaarik, Taghrid Aloraini, Roselyn Paclejan, Mohammed Balwi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed A. Alfares
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 1-13 (2023)
Background: Accurate diagnosis benefits patients and their families by directing clinical management; predicting recurrence risks; providing prognosis; and preventing the invasive, time-consuming, and costly diagnostic odyssey. The present study aime
Externí odkaz:
https://doaj.org/article/2aa7b28133b04d7c89c33bce75dc89be
Autor:
Mohammed Alyahya, Taghrid Aloraini, Youseef Al-Harbi, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyaid, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 5, Iss 2, Pp 37-42 (2022)
Background: Physicians and geneticists face challenges in making accurate diagnoses during clinical evaluations; affecting patients and clinicians. The aim of this study was to estimate the hit rate of the non-consanguineous population. Moreover, pre
Externí odkaz:
https://doaj.org/article/0004dfbc766b4b9f9f11a9c6335bc509
Autor:
Mariam Al Eissa, Taghrid Aloraini, Lamia Alsubaie, Abdulrahman Alswaid, Wafaa Eyiad, Fuad Al Mutairi, Faroug Ababneh, Majid Alfadhel, Ahmed Alfares
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 4, Iss 2, Pp 70-75 (2021)
Background: Inborn errors of metabolism (IEM) are prevalent autosomal recessive disorders in Saudi Arabia. Socio-economic factors, such as consanguineous marriages, play a role in the high rate of diseases. The government of Saudi Arabia created a ne
Externí odkaz:
https://doaj.org/article/0aeb3ca91b1e4af2bbf35d3e5be48d9f
Autor:
William L. Macken, Annie Godwin, Gabrielle Wheway, Karen Stals, Liliya Nazlamova, Sian Ellard, Ahmed Alfares, Taghrid Aloraini, Lamia AlSubaie, Majid Alfadhel, Sulaiman Alajaji, Htoo A. Wai, Jay Self, Andrew G. L. Douglas, Alexander P. Kao, Matthew Guille, Diana Baralle
Publikováno v:
Genome Medicine, Vol 13, Iss 1, Pp 1-19 (2021)
Abstract Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER). In recent years, coat proteins have been implicated in human di
Externí odkaz:
https://doaj.org/article/80c8d687a6984db2bccd3da2c3505ebc
Autor:
Ahmed Alfares, Lamia Alsubaie, Taghrid Aloraini, Aljoharah Alaskar, Azza Althagafi, Ahmed Alahmad, Mamoon Rashid, Abdulrahman Alswaid, Ali Alothaim, Wafaa Eyaid, Faroug Ababneh, Mohammed Albalwi, Raniah Alotaibi, Mashael Almutairi, Nouf Altharawi, Alhanouf Alsamer, Marwa Abdelhakim, Senay Kafkas, Katsuhiko Mineta, Nicole Cheung, Abdallah Abdallah, Stine Büchmann-Møller, Yoshinori Fukasawa, Xiang Zhao, Issaac Rajan, Robert Hoehndorf, Fuad Al Mutairi, Takashi Gojobori, Majid Alfadhel
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-8 (2020)
Abstract Background Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the
Externí odkaz:
https://doaj.org/article/02619d9deba348488774cc3033bd1377
Autor:
Rana Almutairi, Sara Alrashidi, Muhammed Umair, Maha Alshalan, Lamia Alsubaie, Taghrid Aloraini, Ahmed Al Ahmad, Ahmed Alfares, Fuad Al Mutairi
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 3, Iss 1, Pp 45-51 (2020)
Background: Congenital myopathies are a diverse group of diseases that share features from the early onset of symptoms in the first year of life, such as hypotonia, muscle weakness, and developmental delays, and are often associated with respiratory
Externí odkaz:
https://doaj.org/article/64f97d2a90b640f49cb6057de57ea8b7
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 2, Iss 2, Pp 107-115 (2019)
Background: To evaluate knowledge and attitude toward cancer genetic tests (CGT) and cancer genetic counseling for improving underdeveloped CGT services and to achieve a better understanding of how cancer genetic services are being perceived in the S
Externí odkaz:
https://doaj.org/article/a914099330fc40888c33e5672425d468
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 1, Iss 1, Pp 31-36 (2018)
Background: Next-generation sequencing has been leading the genetic study of human disease for the past 10 years, generating a huge amount of sequence variant data, which are stored in variant call format (VCF) files. The aim of the study was to reas
Externí odkaz:
https://doaj.org/article/0a415b087bac4a0695cb539347cd3ba9
Autor:
Omalkhair Abulkhair, Mohammed Al Balwi, Ola Makram, Lamia Alsubaie, Medhat Faris, Hussam Shehata, Ahmed Hashim, Banu Arun, Ahmed Saadeddin, Ezzeldin Ibrahim
Publikováno v:
Journal of Global Oncology, Vol 4 (2018)
Purpose: Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneou
Externí odkaz:
https://doaj.org/article/57e7d38210594c53aee612afb1da7234
Autor:
Azza Althagafi, Lamia Alsubaie, Nagarajan Kathiresan, Katsuhiko Mineta, Taghrid Aloraini, Fuad Al Mutairi, Majid Alfadhel, Takashi Gojobori, Ahmad Alfares, Robert Hoehndorf
Publikováno v:
Bioinformatics. 38:1677-1684
Motivation Structural genomic variants account for much of human variability and are involved in several diseases. Structural variants are complex and may affect coding regions of multiple genes, or affect the functions of genomic regions in differen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7a29de7ecf424091c336352c173dcf
https://doi.org/10.1093/bioinformatics/btab859
https://doi.org/10.1093/bioinformatics/btab859