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1دورية أكاديمية
المؤلفون: Lama AlAbdi, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Bayan Aljamal, Mashael Alqahtani, Aisha Almulhim, Halima Hamid, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Amal Jaafar, Tarfa Alshidi, Mohammed Al-Owain, Amal Alhashem, Saeed Al Tala, Arif O. Khan, Elham Mardawi, Hisham Alkuraya, Eissa Faqeih, Manal Afqi, Salwa Alkhalifi, Zuhair Rahbeeni, Samya T. Hagos, Wijdan Al-Ahmadi, Seba Nadeef, Sateesh Maddirevula, Khalid S. A. Khabar, Alexander Putra, Angel Angelov, Changsook Park, Ana M. Reyes-Ramos, Husen Umer, Ikram Ullah, Patrick Driguez, Yoshinori Fukasawa, Ming Sin Cheung, Imed Eddine Gallouzi, Fowzan S. Alkuraya
المصدر: Genome Medicine, Vol 15, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: Long-read sequencing, Autozygome, STX3, ABHD12, C1orf109, FLVCR1, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-994X
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2دورية أكاديمية
المؤلفون: Lama AlAbdi, Sateesh Maddirevula, Hanan E. Shamseldin, Ebtissal Khouj, Rana Helaby, Halima Hamid, Aisha Almulhim, Mais O. Hashem, Firdous Abdulwahab, Omar Abouyousef, Mashael Alqahtani, Norah Altuwaijri, Amal Jaafar, Tarfa Alshidi, Fatema Alzahrani, Mendeliome Group, Fowzan S. Alkuraya
المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-19 (2023)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2041-1723
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3دورية أكاديمية
المؤلفون: Sateesh Maddirevula, Hiroyuki Kuwahara, Nour Ewida, Hanan E. Shamseldin, Nisha Patel, Fatema Alzahrani, Tarfa AlSheddi, Eman AlObeid, Mona Alenazi, Hessa S. Alsaif, Maha Alqahtani, Maha AlAli, Hatoon Al Ali, Rana Helaby, Niema Ibrahim, Firdous Abdulwahab, Mais Hashem, Nadine Hanna, Dorota Monies, Nada Derar, Afaf Alsagheir, Amal Alhashem, Badr Alsaleem, Hamoud Alhebbi, Sami Wali, Ramzan Umarov, Xin Gao, Fowzan S. Alkuraya
المصدر: Genome Biology, Vol 21, Iss 1, Pp 1-21 (2020)
مصطلحات موضوعية: Negative WES, RNA-based diagnostics, Mapping, Mendelian, Transcriptomics, Biology (General), QH301-705.5, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Arif O. Khan, Lama AlAbdi, Nisha Patel, Rana Helaby, Mais Hashem, Firdous Abdulwahab, Fahad B. AlBadr, Fowzan S. Alkuraya
المصدر: Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)
مصطلحات موضوعية: cataract, COL11A1, COL2A1, COL9A1, Stickler syndrome, vitreous, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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5
المؤلفون: Lama AlAbdi, Muneera Alshammari, Rana Helaby, Arif O. Khan, Fowzan S. Alkuraya
المصدر: Human Genetics. 142:139-144
مصطلحات موضوعية: Genetics, Genetics (clinical)
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6
المؤلفون: Lama Al-Abdi, Mohamed H Al-Hamed, Rana Helaby, Faiqa Imtiaz, Shatha Alrashseed, Ahood Alsulaiman, Fowzan S. Alkuraya
المصدر: Genetics in Medicine. 23:2448-2454
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Pregnancy, First Cousin, business.industry, Pedigree chart, Disease, medicine.disease, Human genetics, Residual risk, Second cousin, Medicine, business, Genetics (clinical)
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7
المؤلفون: Sonal, Mahajan, Bobby George, Ng, Lama, AlAbdi, Paul Daniel James, Earnest, Paulina, Sosicka, Nisha, Patel, Rana, Helaby, Firdous, Abdulwahab, Miao, He, Fowzan S, Alkuraya, Hudson H, Freeze
المصدر: Journal of medical genetics.
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8
المؤلفون: Anuradha Ganesh, Fathiya Al Murshedi, Niema Ibrahim, Lama Al-Abdi, Rana Helaby, Alaa Elmanzalawy, Fowzan S. Alkuraya, Nisha Patel, Asila Al Habsi
المصدر: Human Genetics. 139:615-622
مصطلحات موضوعية: Male, Pelizaeus-Merzbacher Disease, Sequence Homology, Biology, Severity of Illness Index, White matter, 03 medical and health sciences, Myelin, 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase, Genetics, medicine, Humans, Missense mutation, Amino Acid Sequence, Child, Exome, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Multiple sclerosis, Homozygote, 030305 genetics & heredity, Leukodystrophy, Infant, Prognosis, medicine.disease, Null allele, Phenotype, Pedigree, medicine.anatomical_structure, Child, Preschool, Mutation, Immunology, Female
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9
المؤلفون: Abdullah S. Al-Kharashi, Ahmed M. Abu El-Asrar, Emad B. Abboud, Bandar Alamro, Fowzan S. Alkuraya, Ramadan Alturki, Rana Helaby, Niema Ibrahim, Bandar Al Ghamdi, Hisham Alkuraya, Nisha Patel, Mohammed D. Alotaibi, Sawsan R. Nowilaty, Abdulrahman Al-Hussaini, Sulaiman M. Alsulaiman, Amani Elshaer, Zainab Almasseri, Hamad Al-Zaidan, Naif A.M. Almontashiri, Wafaa Eyaid
المصدر: Clinical Genetics. 97:447-456
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Cirrhosis, Adolescent, Fundus Oculi, Retinal Artery, Pulmonic stenosis, Visual Acuity, 030105 genetics & heredity, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Aneurysm, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Fluorescein Angiography, Child, Genetics (clinical), Retinal arterial macroaneurysms, business.industry, Homozygote, Infant, Retinal detachment, Retinal, Surgical correction, medicine.disease, Insulin-Like Growth Factor Binding Proteins, Pulmonary Valve Stenosis, Stenosis, 030104 developmental biology, chemistry, Child, Preschool, Retinal Arterial Macroaneurysm, Cardiology, Female, business
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10
المؤلفون: Fahad B Albadr, Fowzan S. Alkuraya, Lama Al-Abdi, Arif O. Khan, Nisha Patel, Rana Helaby, Firdous Abdulwahab, Mais Hashem
المصدر: Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine, Vol 9, Iss 5, Pp n/a-n/a (2021)مصطلحات موضوعية: 0301 basic medicine, Male, genetic structures, QH426-470, 030105 genetics & heredity, Gene mutation, Collagen Type XI, Eye, Stickler syndrome, Iridodonesis, COL9A1, LDL-Receptor Related Protein-Associated Protein, Child, Connective Tissue Diseases, Genetics (clinical), medicine.diagnostic_test, Autosomal dominant trait, Retinal detachment, Hypoplasia, Phenotype, cataract, Child, Preschool, Female, Original Article, medicine.medical_specialty, Heterozygote, COL2A1, Hearing Loss, Sensorineural, Aphakia, Collagen Type IX, COL11A1, vitreous, 03 medical and health sciences, Ophthalmology, Genetics, medicine, Humans, Genetic Testing, Molecular Biology, Collagen Type II, Genetic testing, business.industry, Arthritis, Retinal Detachment, Original Articles, medicine.disease, eye diseases, 030104 developmental biology, Mutation, business