المؤلفون: Maan Abdullah Albarry, Muhammad Latif, Ahdab Qasem Alreheli, Mohammed A Awadh, Ahmad M Almatrafi, Alia M Albalawi, Sulman Basit

المصدر: PLoS ONE, Vol 16, Iss 2, p e0246607 (2021)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/9e57bb30209b442dac9ec16c7338094d

المؤلفون: Bushra Khan, Khushnooda Ramzan, Maan Al-Barry, Ahdab Qasem Alreheli, Alia M. Albalawi, Jamil A. Hashmi, Sulman Basit

المصدر: Ophthalmic Genetics. 40:507-513

مصطلحات موضوعية: Genetics, Heterogeneous group, genetic structures, Dystrophy, Biology, medicine.disease, eye diseases, Ophthalmology, Pediatrics, Perinatology and Child Health, Retinitis pigmentosa, medicine, sense organs, Gene, Genetics (clinical), Exome sequencing, Loss function

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::04308ef0cce46ec44301f07809e416b8
https://doi.org/10.1080/13816810.2019.1703014

المؤلفون: Waseem A. Aalam, Hussain F. Al-Habboubi, Essam S. Kordi, Ahdab Qasem Alreheli, Mohammad M. Aloufi

المصدر: Saudi Journal of Ophthalmology, Vol 33, Iss 4, Pp 338-341 (2019)
Saudi Journal of Ophthalmology

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Saudi Arabia, Consanguinity, Duane Retraction Syndrome, 03 medical and health sciences, 0302 clinical medicine, lcsh:Ophthalmology, medicine, In patient, 030212 general & internal medicine, Family history, Clinical characteristics, business.industry, Al-Medina, medicine.disease, eye diseases, Ophthalmology, lcsh:RE1-994, 030221 ophthalmology & optometry, Original Article, Observational study, Pediatric ophthalmology, business, Esotropia, Duane retraction syndrome (DRS), Rare disease

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b9bbe13e73b92cb4559cf34a639cb5
https://doi.org/10.1016/j.sjopt.2019.07.007

المؤلفون: Ahdab Qasem Alreheli, Sulman Basit, Alia M. Albalawi, Maan Al-Barry

المصدر: Saudi Journal of Ophthalmology, Vol 33, Iss 4, Pp 326-331 (2019)
Saudi Journal of Ophthalmology

مصطلحات موضوعية: Genetics, Chromosomal regions, business.industry, Waardenburg syndrome, Genetic disorder, Chromosome, medicine.disease, Identity by descent, Gene, SNP genotyping, 03 medical and health sciences, Ophthalmology, 0302 clinical medicine, lcsh:Ophthalmology, Chromosome 18, lcsh:RE1-994, Chromosomal region, 030221 ophthalmology & optometry, Medicine, Original Article, 030212 general & internal medicine, business, Genotyping

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4058ea5e6b5ad9656b4435df4de0ee9b
http://www.sciencedirect.com/science/article/pii/S1319453419300529

المؤلفون: Muhammad Latif, Sulman Basit, Alia M. Albalawi, Mohammed A. Awadh, Ahdab Qasem Alreheli, Maan Al-Barry, Ahmad Almatrafi

المصدر: PLoS ONE
PLoS ONE, Vol 16, Iss 2, p e0246607 (2021)

مصطلحات موضوعية: 0301 basic medicine, Male, Heredity, Single Nucleotide Polymorphisms, 0302 clinical medicine, Chromosome Segregation, Medicine and Health Sciences, Missense mutation, Waardenburg Syndrome, Genome Sequencing, Frameshift Mutation, Exome sequencing, Genetics, Multidisciplinary, Heterozygosity, Waardenburg syndrome, Genomics, Microphthalmia-associated transcription factor, SNP genotyping, Pedigree, Deletion Mutation, Medicine, Female, Anatomy, Research Article, Adult, Genotyping, Adolescent, Science, Mutation, Missense, Single-nucleotide polymorphism, Biology, Research and Analysis Methods, Polymorphism, Single Nucleotide, Frameshift mutation, 03 medical and health sciences, Open Reading Frames, Ocular System, Exome Sequencing, medicine, Humans, Molecular Biology Techniques, Sequencing Techniques, Molecular Biology, Microphthalmia-Associated Transcription Factor, Biology and Life Sciences, medicine.disease, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, Eyes, Head

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13f1181fbd6590b754aa97647266d9a4
http://europepmc.org/articles/PMC7877624

المؤلفون: Maan Abdullah, Albarry, Jamil Amjad, Hashmi, Ahdab Qasem, Alreheli, Alia M, Albalawi, Bushra, Khan, Khushnooda, Ramzan, Sulman, Basit

المصدر: Ophthalmic genetics. 40(6)

مصطلحات موضوعية: Male, Loss of Function Mutation, Child, Preschool, Homozygote, Exome Sequencing, Humans, Female, Eye Proteins, Prognosis, Microtubule-Associated Proteins, Polymorphism, Single Nucleotide, Retinitis Pigmentosa, Pedigree

URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::b974106c92358d8bf009c5d1a82e0023
https://pubmed.ncbi.nlm.nih.gov/31833436

المؤلفون: Zainab Salman Alsuhaymi , Ahdab Qasem Alreheli , Areej Mustafa Alawfi , Asma Masad Alhazmi , Raghad Zaid Aljuhani , Emtinan Mohammed Salem Alruhaili, Somaya Soliman Alsuhimi

مصطلحات موضوعية: education

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2018170ba09e3aaa5ba57717703602