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1دورية أكاديمية
المصدر: Frontiers in Immunology, Vol 12 (2021)
مصطلحات موضوعية: whole exome sequencing (WES), chronic granulomatous disease (CGD), Williams-Beuren syndrome (WBS), copy number variation (CNV), blended phenotypes, dual molecular diagnosis, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2021.778133/fullTest; https://doaj.org/toc/1664-3224Test
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2دورية أكاديمية
المؤلفون: Chai Teng Chear, Bader Abdul Kader El Farran, Marina Sham, Kavetha Ramalingam, Lokman Mohd Noh, Intan Hakimah Ismail, Mei Yee Chiow, Mohd Farid Baharin, Adiratna Mat Ripen, Saharuddin Bin Mohamad
المصدر: Genes, Vol 13, Iss 10, p 1900 (2022)
مصطلحات موضوعية: hyper IgM-like phenotype, NFKBIA, IκBα, NF-κB, post-translational modification, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Adiratna Mat Ripen, Hamidah Ghani, Chai Teng Chear, Mei Yee Chiow, Sharifah Nurul Husna Syed Yahya, Asiah Kassim, Saharuddin Bin Mohamad
المصدر: SAGE Open Medicine, Vol 8 (2020)
مصطلحات موضوعية: Medicine (General), R5-920
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2050-3121Test
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4
المؤلفون: Adiratna Mat Ripen, Sharifah Nurul Husna Syed Yahya, Chai Teng Chear, Saharuddin B. Mohamad, Hamidah Ghani, Asiah Kassim, Mei Yee Chiow
المصدر: SAGE Open Medicine
مصطلحات موضوعية: paediatric, Hepatosplenomegaly, Monozygotic twin, Compound heterozygosity, whole exome sequencing, Respiratory medicine, 03 medical and health sciences, 0302 clinical medicine, Medicine, Exome sequencing, Recurrent upper respiratory tract infections, 030304 developmental biology, Malay, 0303 health sciences, Bronchiectasis, business.industry, Common variable immunodeficiency, General Medicine, medicine.disease, allergy/immunology, language.human_language, 030220 oncology & carcinogenesis, Immunology, language, Original Article, medicine.symptom, business, primary immunodeficiencies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e51a4fea19013b6b5e5c5e6d2db6ce8Test
https://doi.org/10.1177/2050312120922652Test