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Marwa Abdelhakim

Showing results (1-10 of 14) with videos related to

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Journal of Biomedical Semantics|January 15, 2020
Combining lexical and context features for automatic ontology extensionSara Althubaiti, Şenay Kafkas, Marwa Abdelhakim, et al.
BMC Bioinformatics|July 21, 2023
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomesȘenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, et al.
Scientific Data|June 5, 2019
PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease researchŞenay Kafkas, Marwa Abdelhakim, Yasmeen Hashish, et al.
Scientific Reports|April 29, 2025
The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patientsŞenay Kafkas, Marwa Abdelhakim, Azza Althagafi, et al.
Orphanet Journal of Rare Diseases|June 13, 2020
DDIEM: drug database for inborn errors of metabolismMarwa Abdelhakim, Eunice McMurray, Ali Raza Syed, et al.
Clinical Genetics|September 5, 2020
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiencyMalak Alghamdi, Fahad A Bashiri, Marwa Abdelhakim, et al.
Frontiers in Pediatrics|December 2, 2020
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective StudyMalak Alghamdi, Khalid A Alhasan, Areej Taha Elawad, et al.
Scientific Data|August 12, 2025
Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi ArabiaMaxat Kulmanov, Saeideh Ashouri, Yang Liu, et al.
Clinical Genetics|September 2, 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delayMuhammad Umair, Mariam Ballow, Abdulaziz Asiri, et al.
Scientific Data|November 23, 2024
A reference quality, fully annotated diploid genome from a Saudi individualMaxat Kulmanov, Rund Tawfiq, Yang Liu, et al.
Pageof 2

Showing results (1-10 of 14) with videos related to

Sort By:
Pageof 2
Journal of Biomedical Semantics|January 15, 2020
Combining lexical and context features for automatic ontology extensionSara Althubaiti, Şenay Kafkas, Marwa Abdelhakim, et al.
BMC Bioinformatics|July 21, 2023
Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomesȘenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, et al.
Scientific Data|June 5, 2019
PathoPhenoDB, linking human pathogens to their phenotypes in support of infectious disease researchŞenay Kafkas, Marwa Abdelhakim, Yasmeen Hashish, et al.
Scientific Reports|April 29, 2025
The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patientsŞenay Kafkas, Marwa Abdelhakim, Azza Althagafi, et al.
Orphanet Journal of Rare Diseases|June 13, 2020
DDIEM: drug database for inborn errors of metabolismMarwa Abdelhakim, Eunice McMurray, Ali Raza Syed, et al.
Clinical Genetics|September 5, 2020
Phenotypic and molecular spectrum of pyridoxamine-5'-phosphate oxidase deficiency: A scoping review of 87 cases of pyridoxamine-5'-phosphate oxidase deficiencyMalak Alghamdi, Fahad A Bashiri, Marwa Abdelhakim, et al.
Frontiers in Pediatrics|December 2, 2020
Diversity of Phenotype and Genetic Etiology of 23 Cystinuria Saudi Patients: A Retrospective StudyMalak Alghamdi, Khalid A Alhasan, Areej Taha Elawad, et al.
Scientific Data|August 12, 2025
Phased genome assemblies and pangenome graphs of human populations of Japan and Saudi ArabiaMaxat Kulmanov, Saeideh Ashouri, Yang Liu, et al.
Clinical Genetics|September 2, 2020
EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delayMuhammad Umair, Mariam Ballow, Abdulaziz Asiri, et al.
Scientific Data|November 23, 2024
A reference quality, fully annotated diploid genome from a Saudi individualMaxat Kulmanov, Rund Tawfiq, Yang Liu, et al.
Pageof 2