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1رسالة جامعية
المؤلفون: Serra Juhé, Clara
المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut
مرشدي الرسالة: Pérez Jurado, Luis Alberto
المصدر: TDX (Tesis Doctorals en Xarxa)
مصطلحات موضوعية: Malformacions congènites, Malformacions cardíaques congènites, Epigenètica, Variacions en número de còpia (CNV), Mutacions puntuals, Assessorament genètic, Análisis cromosòmica en micromatrius, Seqüenciació d’exoma, Metilació del DNA, Congenital malformations, Congenital heart defects, Epigenetics, Copy number variation (CNV), Point mutations, Genetic counseling, Chromosomal microarray analysis, Exome sequencing, DNA methylation
وصف الملف: application/pdf
الوصول الحر: http://hdl.handle.net/10803/96194Test
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2دورية أكاديمية
المؤلفون: Guanhua Qian, Liuyun Cai, Hong Yao, Xiaojing Dong
المصدر: BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Prenatal diagnosis, Chromosomal microarray analysis (CMA), Copy number variation (CNV), Karyotype analysis, Gynecology and obstetrics, RG1-991
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2393Test
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3دورية أكاديمية
المؤلفون: Yasser Al-Sarraj, Rowaida Z. Taha, Eman Al-Dous, Dina Ahram, Somayyeh Abbasi, Eman Abuazab, Hibah Shaath, Wesal Habbab, Khaoula Errafii, Yosra Bejaoui, Maryam AlMotawa, Namat Khattab, Yasmin Abu Aqel, Karim E. Shalaby, Amina Al-Ansari, Marios Kambouris, Adel Abouzohri, Iman Ghazal, Mohammed Tolfat, Fouad Alshaban, Hatem El-Shanti, Omar M. E. Albagha
المصدر: Frontiers in Genetics, Vol 15 (2024)
مصطلحات موضوعية: autism spectrum disorder (ASD), neurodevelopmental disorders, epilepsy, next-generation sequencing (NGS), copy number variation (CNV), de novo mutation, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2024.1363849/fullTest; https://doaj.org/toc/1664-8021Test
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4دورية أكاديمية
المؤلفون: Pamela Gan, Muhammad Irfan Bin Hajis, Mazaya Yumna, Jessline Haruman, Husnul Khotimah Matoha, Dian Tri Wahyudi, Santha Silalahi, Dwi Rizky Oktariani, Fitria Dela, Tazkia Annisa, Tessalonika Damaris Ayu Pitaloka, Priscilla Klaresza Adhiwijaya, Rizqi Yanuar Pauzi, Robby Hertanto, Meutia Ayuputeri Kumaheri, Levana Sani, Astrid Irwanto, Ariel Pradipta, Kamonlawan Chomchopbun, Mar Gonzalez-Porta
المصدر: Frontiers in Pharmacology, Vol 15 (2024)
مصطلحات موضوعية: SNP microarray, copy number variation (CNV) calling, microarray-based genotyping, pharmacogenomics, single nucleotide variant (SNV) calling, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fphar.2024.1349203/fullTest; https://doaj.org/toc/1663-9812Test
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5دورية أكاديمية
المؤلفون: Wei Zhang, Chengliang Xu, Mei Zhou, Linqing Liu, Zelan Ni, Shiguang Su, Chonglong Wang
المصدر: Frontiers in Veterinary Science, Vol 11 (2024)
مصطلحات موضوعية: Wanbei pig, Asian wild boar, copy number variation (CNV), selection signature, whole genome resequencing, Veterinary medicine, SF600-1100
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fvets.2024.1364267/fullTest; https://doaj.org/toc/2297-1769Test
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6دورية أكاديمية
المؤلفون: Xing Xin, Peng Xu, Nan Wang, Yi Jiang, Jiaqiao Zhang, Shufang Li, Ying Zhu, Cong Zhang, Long Zhang, Hailong Huang, Ling Feng, Shaoshuai Wang
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)
مصطلحات موضوعية: Copy number variation (CNV), Karyotyping, Azoospermia, Oligospermia, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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7دورية أكاديمية
المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Si, Ya-Qin, Tucci, Albert, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Alex, Rajput, De Deyn, Peter Paul, Le Bastard, Nathalie, Gearing, Marla, Donker Kaat, Laura, Van Swieten, John C., Dopper, Elise, Ghetti, Bernardino F., Newell, Kathy L., Troakes, Claire, de Yébenes, Justo G., Rábano-Gutierrez, Alberto, Meller, Tina, Oertel, Wolfgang H., Respondek, Gesine, Stamelou, Maria, Arzberger, Thomas, Roeber, Sigrun, Müller, Ulrich, Hopfner, Franziska, Pastor, Pau, Brice, Alexis, Durr, Alexandra, Le Ber, Isabelle, Beach, Thomas G., Serrano, Geidy E., Hazrati, Lili-Naz, Litvan, Irene, Rademakers, Rosa, Ross, Owen A., Galasko, Douglas, Boxer, Adam L., Miller, Bruce L., Seeley, Willian W., Van Deerlin, Vivianna M., Lee, Edward B., White, Charles L., III, Morris, Huw R., de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, PSP genetics study group, Dickson, Dennis W., Höglinger, Günter U., Tzeng, Jung-Ying, Geschwind, Daniel H., Schellenberg, Gerard D., Lee, Wan-Ping
المساهمون: Pathology and Laboratory Medicine, School of Medicine
المصدر: PMC
مصطلحات موضوعية: Copy number variation (CNV), Progressive Supranuclear Palsy (PSP), H1 and H2 haplotypes
وصف الملف: application/pdf
العلاقة: Wang H, Chang TS, Dombroski BA, et al. Association of Structural Forms of 17q21.31 with the Risk of Progressive Supranuclear Palsy and MAPT Sub-haplotypes. Preprint. medRxiv. 2024;2024.02.26.24303379. Published 2024 Feb 28. doi:10.1101/2024.02.26.24303379; https://hdl.handle.net/1805/41856Test
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8دورية أكاديمية
المؤلفون: Thomas Liehr, Monika Ziegler, Luisa Person, Stefanie Kankel, Niklas Padutsch, Anja Weise, Jörg Paul Weimer, Heather Williams, Susana Ferreira, Joana B. Melo, Isabel M. Carreira
المصدر: Frontiers in Genetics, Vol 14 (2023)
مصطلحات موضوعية: small supernumerary marker chromosomes (sSMCs), chromosome 11, triplosensitive genes, pericentric region, copy number variation (CNV), uniparental disomy (UPD), Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2023.1293652/fullTest; https://doaj.org/toc/1664-8021Test
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9دورية أكاديمية
المؤلفون: Jin-Hui Yin, Wen-Zheng Hu, Yue Huang
المصدر: BMC Neurology, Vol 23, Iss 1, Pp 1-7 (2023)
مصطلحات موضوعية: Sandhoff disease, Ataxia, HEXB, Copy number variation (CNV) variant, Hemizygous variation, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1471-2377Test
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10دورية أكاديمية
المؤلفون: Ashish Kumar Singh, Bente Talseth-Palmer, Alexandre Xavier, Rodney J. Scott, Finn Drabløs, Wenche Sjursen
المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-13 (2023)
مصطلحات موضوعية: Whole exome sequencing (WES), Colorectal cancer (CRC), Lynch syndrome (LS), Familial colorectal cancer Type X (FCCTX), Mismatch repair (MMR), Copy number variation (CNV), Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
النص الكامل