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1دورية أكاديمية
المؤلفون: Hiago Azevedo Cintra, Danielle Nascimento Rocha, Ana Carolina Carioca da Costa, Latife Salomão Tyszler, Silvia Freitas, Leonardo Abreu de Araujo, Lisanne Incoutto Crozoe, Luísa Ribeiro de Paula, Patricia Santana Correia, Leonardo Henrique Ferreira Gomes, Letícia da Cunha Guida
المصدر: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-12 (2024)
مصطلحات موضوعية: Prader-Willi syndrome, Imprinting, Epigenetics, Methylation-specific multiplex ligation-dependent probe amplification, Genotype, Clinical manifestations, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1750-1172Test
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2دورية أكاديمية
المؤلفون: Chunxiao Hua, Lina Liu, Xiangdong Kong
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-8 (2023)
مصطلحات موضوعية: Duchenne muscular dystrophy (DMD), Multiplex ligation-dependent probe amplification (MLPA), STR linkage analysis, Sanger sequencing, Prenatal diagnosis, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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3دورية أكاديمية
المؤلفون: Maria Mabyalwa Mudau, Bronwyn Dillon, Clarice Smal, Candice Feben, Engela Honey, Nadia Carstens, Amanda Krause
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: Neurofibramotosis type 1, single nucleotide variant (SNV), copy number variants (CNV), next generating sequencing, MLPA (multiplex ligation-dependent probe amplification), Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1331278/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Yuko Tasaki, Hiroshi Tsujimoto, Tadafumi Yokoyama, Naotoshi Sugimoto, Shinji Kitajima, Hiroshi Fujii, Yoshihiko Hidaka, Noritoshi Kato, Shoichi Maruyama, Norimitsu Inoue, Taizo Wada
المصدر: Frontiers in Immunology, Vol 15 (2024)
مصطلحات موضوعية: atypical hemolytic uremic syndrome, factor H, complement factor H-related, multiplex ligation-dependent probe amplification (MLPA), CFH::CFHR1 fusion gene, CFHR3-1-4-2 genes duplication, Immunologic diseases. Allergy, RC581-607
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fimmu.2024.1360855/fullTest; https://doaj.org/toc/1664-3224Test
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5مؤتمر
المؤلفون: Yuko Tasaki, Hiroshi Tsujimoto, Tadafumi Yokoyama, Naotoshi Sugimoto, Shinji Kitajima, Hiroshi Fujii, Yoshihiko Hidaka, Noritoshi Kato, Shoichi Maruyama, Norimitsu Inoue, Taizo Wada
مصطلحات موضوعية: Immunology, Applied Immunology (incl. Antibody Engineering, Xenotransplantation and T-cell Therapies), Autoimmunity, Cellular Immunology, Humoural Immunology and Immunochemistry, Immunogenetics (incl. Genetic Immunology), Innate Immunity, Transplantation Immunology, Tumour Immunology, Immunology not elsewhere classified, Genetic Immunology, Animal Immunology, Veterinary Immunology, atypical hemolytic uremic syndrome, factor H, complement factor H-related, multiplex ligation-dependent probe amplification (MLPA), CFH::CFHR1 fusion gene, CFHR3-1-4-2 genes duplication
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6دورية أكاديمية
المؤلفون: Margit Pál, Éva Vetró, Nikoletta Nagy, Dóra Nagy, Emese Horváth, Barbara Anna Bokor, Anita Varga, László Seres, Judit Oláh, József Piffkó, Márta Széll
المصدر: Current Issues in Molecular Biology, Vol 45, Iss 7, Pp 5293-5304 (2023)
مصطلحات موضوعية: basal cell nevus syndrome, Gorlin syndrome, whole-exome sequencing, multiplex ligation-dependent probe amplification, missing heritability, Biology (General), QH301-705.5
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1467-3045/45/7/336Test; https://doaj.org/toc/1467-3037Test; https://doaj.org/toc/1467-3045Test
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7دورية أكاديمية
المؤلفون: Ioannis Petrakis, Maria Sfakiotaki, Maria Bitsori, Eleni Drosataki, Kleio Dermitzaki, Christos Pleros, Ariadni Androvitsanea, Dimitrios Samonakis, Amalia Sertedaki, Paraskevi Xekouki, Emmanouil Galanakis, Kostas Stylianou
المصدر: International Journal of Molecular Sciences, Vol 25, Iss 8, p 4552 (2024)
مصطلحات موضوعية: cystic kidney disease, genetic variability, hepatic nuclear factor 1B (HNF1B), multiplex ligation-dependent probe amplification (MPLA), whole exome sequencing (WES), Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
العلاقة: https://www.mdpi.com/1422-0067/25/8/4552Test; https://doaj.org/toc/1661-6596Test; https://doaj.org/toc/1422-0067Test
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8دورية أكاديمية
المؤلفون: Alexandru Cristian Bolunduț, Florina Nazarie, Cecilia Lazea, Crina Șufană, Diana Miclea, Călin Lazăr, Carmen Mihaela Mihu
المصدر: Genes, Vol 15, Iss 2, p 207 (2024)
مصطلحات موضوعية: congenital heart defects, copy number variations, multiplex ligation-dependent probe amplification, 22q11.2 deletion, Genetics, QH426-470
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Ja Hye Kim, Yunha Choi, Soojin Hwang, Ji-Hee Yoon, Jieun Lee, Min Jae Kang, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi
المصدر: Endocrine Connections, Vol 12, Iss 5, Pp 1-11 (2023)
مصطلحات موضوعية: anos1, copy number variation, kallmann syndrome, multiplex ligation-dependent probe amplification, hypogonadotropic hypogonadism, Diseases of the endocrine glands. Clinical endocrinology, RC648-665
وصف الملف: electronic resource
العلاقة: https://ec.bioscientifica.com/view/journals/ec/12/5/EC-22-0413.xmlTest; https://doaj.org/toc/2049-3614Test
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10دورية أكاديمية
المصدر: Shipin Kexue, Vol 44, Iss 4, Pp 300-305 (2023)
مصطلحات موضوعية: multiplex ligation-dependent probe amplification, food allergen, multiple detection, limit of detection, Food processing and manufacture, TP368-456
وصف الملف: electronic resource
العلاقة: https://www.spkx.net.cn/fileup/1002-6630/PDF/2023-44-4-040.pdfTest; https://doaj.org/toc/1002-6630Test