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Abdelhakim, Marwa
65  results:
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1

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L. ; O'Leary, Melanie C. ; Lemire, Gabrielle...
Human Genomics.  18 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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2

Starvar: symptom-based tool for automatic ranking of varian..:

Kafkas, Șenay ; Abdelhakim, Marwa ; Uludag, Mahmut...
BMC Bioinformatics.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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3

What is the right sequencing approach? Solo VS extended fam..:

Alfares, Ahmed ; Alsubaie, Lamia ; Aloraini, Taghrid...
BMC Medical Genomics.  13 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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4

Combining lexical and context features for automatic ontolo..:

Althubaiti, Sara ; Kafkas, Şenay ; Abdelhakim, Marwa.
Journal of Biomedical Semantics.  11 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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5

Diversity of Phenotype and Genetic Etiology of 23 Cystinuri..:

Alghamdi, Malak ; Alhasan, Khalid A. ; Taha Elawad, Areej...
Frontiers in Pediatrics.  8 (2020)  - p. , 2020
Link: https://doi.org/10.3389/..
 
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6

EMC10 homozygous variant identified in a family with global..:

Umair, Muhammad ; Ballow, Mariam ; Asiri, Abdulaziz...
Clinical Genetics.  98 (2020)  6 - p. 555-561 , 2020
Link: https://doi.org/10.1111/..
 
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7

Phenotypic and molecular spectrum of pyridoxamine‐5′‐phosph..:

Alghamdi, Malak ; Bashiri, Fahad A. ; Abdelhakim, Marwa...
Clinical Genetics.  99 (2020)  1 - p. 99-110 , 2020
Link: https://doi.org/10.1111/..
 
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8

DDIEM: drug database for inborn errors of metabolism:

Abdelhakim, Marwa ; McMurray, Eunice ; Syed, Ali Raza...
Orphanet Journal of Rare Diseases.  15 (2020)  1 - p. , 2020
Link: https://doi.org/10.1186/..
 
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9

PathoPhenoDB, linking human pathogens to their phenotypes i..:

Kafkas, Şenay ; Abdelhakim, Marwa ; Hashish, Yasmeen...
Scientific Data.  6 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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10

Adjunctive subantimicrobial dose doxycycline in the treatme..:

Gomaa Marwa, Abdelhakim ; El Mohamed, Guindy ; Mahmoud Mohamed, Abdallah.
Balkan Journal of Dental Medicine.  22 (2018)  3 - p. 32-37 , 2018
Link: https://doi.org/10.2478/..
 
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11

Starvar: symptom-based tool for automatic ranking of varian..:

Kafkas, Senay ; Abdelhakim, Marwa ; Uludag, Mahmut...
github:bio-ontology-research-group/STARVar.  , 2023
Link: http://hdl.handle.net/10..
 
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12

Critical assessment of variant prioritization methods for r..:

Stenton, Sarah L ; O'Leary, Melanie ; Lemire, Gabrielle...
http://medrxiv.org/lookup/doi/10.1101/2023.08.02.23293212.  , 2023
Link: http://hdl.handle.net/10..
 
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13

A personal, reference quality, fully annotated genome from ..:

Kulmanov, Maxat ; Tawfiq, Rund ; Al Ali, Hatoon...
github:bio-ontology-research-group/KSA001.  , 2022
Link: http://hdl.handle.net/10..
 
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14

DDIEM: drug database for inborn errors of metabolism:

Abdelhakim, Marwa ; McMurray, Eunice ; Syed, Ali Raza...
doi:10.17863/CAM.53818.  , 2020
Link: https://doi.org/10.17863..
 
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15

DDIEM: drug database for inborn errors of metabolism:

Abdelhakim, Marwa ; McMurray, Eunice ; Syed, Ali Raza...
https://ojrd.biomedcentral.com/articles/10.1186/s13023-020-01428-2.  , 2020
Link: http://hdl.handle.net/10..
 
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