المؤلفون: Volk M, Writzl K, Veble A, Jaklič H, Teran N, Prosenc B, Štimpfel M, Virant Klun I, Vrtačnik Bokal E, Ban Frangež H, Peterlin B

المصدر: Balkan Journal of Medical Genetics, Vol 26, Iss 2, Pp 5-10 (2024)

مصطلحات موضوعية: chromosome aberration, embryo biopsy, in vitro fertilization, monogenic disease, preimplantation genetic testing, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2199-5761Test

الوصول الحر: https://doaj.org/article/6c96e592e7ff4b3d998ebf6d0eaa66d8Test

المؤلفون: Fabián Andrés Garzón Posse, Angie Kathleen Pinilla Peña, Cesar Augusto Rivas Velásquez, María Camila Murillo Virgüez, Jorge Alberto Gutiérrez Méndez

المصدر: Universitas Scientiarum, Vol 29, Iss 1, Pp 1-31 (2024)

مصطلحات موضوعية: crispr cas9, gene editing, monogenic disease, cancer biology, antiviral therapy, bioethics, Science (General), Q1-390

وصف الملف: electronic resource

العلاقة: https://revistas.javeriana.edu.co/index.php/scientarium/article/view/37599Test; https://doaj.org/toc/0122-7483Test; https://doaj.org/toc/2027-1352Test

الوصول الحر: https://doaj.org/article/215db2938be845e98cbc8e40ba4def47Test

المؤلفون: Li Tan, Yuefan Qi, Peijuan Zhao, LanLan Cheng, Guo Yu, Dongmei Zhao, Yu Xia Song, Yun Gai Xiang

المصدر: Molecular Genetics & Genomic Medicine, Vol 12, Iss 4, Pp n/a-n/a (2024)

مصطلحات موضوعية: monogenic/single gene disease, pre‐conception expanded carrier screening (PECS), preimplantation genetic testing of monogenic disease embryo, prenatal diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2324-9269Test

الوصول الحر: https://doaj.org/article/e406887d5fc946f58c3a76bbf1a79d2bTest

المؤلفون: Nada El Makhzen, Houria Daimi, Laila Bouguenouch, Hugues Abriel

المصدر: Frontiers in Genetics, Vol 14 (2024)

مصطلحات موضوعية: CF, CFTR, monogenic disease, rare disease, North Africa, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1295008/fullTest; https://doaj.org/toc/1664-8021Test

الوصول الحر: https://doaj.org/article/0ff911f5b88a4d31824ff44e792c5fe1Test

المؤلفون: Parente P., Macciomei M. C., Buccoliero A. M., Santoro L., Cafferata B., Bifano D., Ferro J., Vanoli A., Fassan M., Angerilli V., Alaggio R., Mastracci L., D'Armiento M., Grillo F., Francalanci P.

المساهمون: Parente, P., Macciomei, M. C., Buccoliero, A. M., Santoro, L., Cafferata, B., Bifano, D., Ferro, J., Vanoli, A., Fassan, M., Angerilli, V., Alaggio, R., Mastracci, L., D'Armiento, M., Grillo, F., Francalanci, P.

مصطلحات موضوعية: apoptotic coliti, Crohn's disease, enterocoliti, eosinophilic coliti, IBD, monogenic disease, ulcerative coliti, VEO-IBD

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/37903647; info:eu-repo/semantics/altIdentifier/wos/WOS:001098076600001; volume:84; issue:3; firstpage:440; lastpage:450; numberofpages:11; journal:HISTOPATHOLOGY; https://hdl.handle.net/11577/3504526Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85175376604

الإتاحة: https://doi.org/10.1111/his.15084Test
https://hdl.handle.net/11577/3504526Test

المؤلفون: Garzón Posse, Fabián Andrés, Pinilla Peña, Angie Kathleen, Rivas Velásquez , Cesar Augusto, Murillo Virgüez , María Camila, Gutiérrez Méndez, Jorge Alberto

المصدر: Universitas Scientiarum; Vol. 29 No. 1 (2024); 1-31 ; Universitas Scientiarum; Vol. 29 Núm. 1 (2024); 1-31 ; Universitas Scientiarum; v. 29 n. 1 (2024); 1-31 ; 2027-1352 ; 0122-7483

مصطلحات موضوعية: CRISPR Cas9, gene editing, monogenic disease, cancer biology, antiviral therapy, bioethics

وصف الملف: application/pdf

العلاقة: https://revistas.javeriana.edu.co/index.php/scientarium/article/view/37599/30093Test; https://revistas.javeriana.edu.co/index.php/scientarium/article/view/37599Test

الإتاحة: https://doi.org/10.11144/Javeriana.SC291.gewcTest
https://revistas.javeriana.edu.co/index.php/scientarium/article/view/37599Test

المؤلفون: Huiling Xu, Jiajie Pu, Suiling Lin, Rui Hu, Jilong Yao, Xuemei Li

المصدر: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)

مصطلحات موضوعية: Aicardi–Goutières syndrome, TREX1, PGT-M, Monogenic disease, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1755-8166Test

الوصول الحر: https://doaj.org/article/d43e3dafd5414e259a32170cb93358a7Test

المؤلفون: Loennechen, Ebba Straume

الإتاحة: https://hdl.handle.net/11250/3141354Test

المؤلفون: Guillermo Edinson Guzmán, Ithzayana Madariaga, Carlos Julio Vargas, Laura Ballen Galeano, Maria Angélica Guerra, Jose Antonio Nastasi

المصدر: Journal of Medical Case Reports, Vol 17, Iss 1, Pp 1-6 (2023)

مصطلحات موضوعية: MODY, Microdeletion syndrome, Monogenic disease, Latin American population, Colombian population, Case report, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1752-1947Test

الوصول الحر: https://doaj.org/article/32f76f95764c481ab6ca99a0826d7087Test

المؤلفون: Jing Su, Xiu Jin, Kaiqin She, Yi Liu, Li Song, Qinyu Zhao, Jianlu Xiao, Ruiting Li, Hongxin Deng, Fang Lu, Yang Yang

المصدر: Molecular Biomedicine, Vol 4, Iss 1, Pp 1-14 (2023)

مصطلحات موضوعية: Lysosomal storage disease, Mucopolysaccharidosis type I, Monogenic disease, Adeno-associated virus, Base editing, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2662-8651Test

الوصول الحر: https://doaj.org/article/50438126a6464129b2b191933cd50900Test