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1دورية أكاديمية
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)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1932-6203
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2
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
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3
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 Ophthalmologyمصطلحات 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
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4
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 Ophthalmologyمصطلحات 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
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5
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
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6
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
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7
مصطلحات موضوعية: education
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b2018170ba09e3aaa5ba57717703602