المؤلفون: Halima Hawesa

المصدر: International Journal of Biomedicine, Vol 14, Iss 3, Pp 478-483 (2024)

مصطلحات موضوعية: liver, lipids, choline, mrs, svs, Medicine

وصف الملف: electronic resource

Relation: http://www.ijbm.org/articles/i55/ijbm_14(3)_oa15.pdf; https://doaj.org/toc/2158-0510; https://doaj.org/toc/2158-0529

URL الوصول: https://doaj.org/article/758824e0307240f2ba1ee9b1e98f1771

المؤلفون: Jaime Simbaqueba, Gina A. Garzón-Martínez, Nicolas Castano

المصدر: International Journal of Plant Biology, Vol 15, Iss 3, Pp 865-877 (2024)

مصطلحات موضوعية: Cedrela odorata, long-read sequencing, chloroplast genome, sequence variants (SVs), Science, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2037-0164/15/3/62; https://doaj.org/toc/2037-0164

URL الوصول: https://doaj.org/article/80566659e7f943b0b7c38825add961a8

المؤلفون: Hui Wang, Timothy S. Chang, Beth A. Dombroski, Po-Liang Cheng, Vishakha Patil, Leopoldo Valiente-Banuet, Kurt Farrell, Catriona Mclean, Laura Molina-Porcel, Alex Rajput, Peter Paul De Deyn, Nathalie Le Bastard, Marla Gearing, Laura Donker Kaat, John C. Van Swieten, Elise Dopper, Bernardino F. Ghetti, Kathy L. Newell, Claire Troakes, Justo G. de Yébenes, Alberto Rábano-Gutierrez, Tina Meller, Wolfgang H. Oertel, Gesine Respondek, Maria Stamelou, Thomas Arzberger, Sigrun Roeber, Ulrich Müller, Franziska Hopfner, Pau Pastor, Alexis Brice, Alexandra Durr, Isabelle Le Ber, Thomas G. Beach, Geidy E. Serrano, Lili-Naz Hazrati, Irene Litvan, Rosa Rademakers, Owen A. Ross, Douglas Galasko, Adam L. Boxer, Bruce L. Miller, Willian W. Seeley, Vivanna M. Van Deerlin, Edward B. Lee, Charles L. White, Huw Morris, Rohan de Silva, John F. Crary, Alison M. Goate, Jeffrey S. Friedman, Yuk Yee Leung, Giovanni Coppola, Adam C. Naj, Li-San Wang, P. S. P. genetics study group, Clifton Dalgard, Dennis W. Dickson, Günter U. Höglinger, Gerard D. Schellenberg, Daniel H. Geschwind, Wan-Ping Lee

المصدر: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-16 (2024)

مصطلحات موضوعية: Progressive Supranuclear Palsy (PSP), Whole-Genome Sequencing (WGS), Genome-Wide Association Study (GWAS), Structural Variants (SVs), Apolipoprotein E (APOE), Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1326

URL الوصول: https://doaj.org/article/855cdef1a9b046af9ac1a7a118950c99

المؤلفون: Asmaa A. Helal, Bishoy T. Saad, Mina T. Saad, Gamal S. Mosaad, Khaled M. Aboshanab

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-22 (2024)

مصطلحات موضوعية: Structural variations (SVs), Mutation detection, Human genome, Nanopore sequencing, Oxford nanopore technology, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/e0bc5065945e4f8580caa7bcf7b1b77c

المؤلفون: Aura Stephenson-Gussinye, Luis A. Rendón-Bautista, Blanca E. Ruiz-Medina, Eduardo Blanco-Olais, Rosario Pérez-Molina, Cleofas Marcial-Medina, Yanin Chavarri-Guerra, Enrique Soto-Pérez-de-Celis, Andrea Morales-Alfaro, Ayerim Esquivel-López, Fernando Candanedo-González, Armando Gamboa-Domínguez, Rubén Cortes-González, Alejandro Alfaro-Goldaracena, Sara E. Vázquez-Manjarrez, Guido Grajales-Figueroa, Beatriz Astudillo-Romero, Jesús Ruiz-Manriquez, A. César Poot-Hernández, Paula Licona-Limón, Mayra Furlan-Magaril

المصدر: Frontiers in Molecular Biosciences, Vol 11 (2024)

مصطلحات موضوعية: structural variations (SVs), Hi-C, single cell RNA sequencing, 3D genome architecture, breast cancer, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmolb.2024.1420308/full; https://doaj.org/toc/2296-889X

URL الوصول: https://doaj.org/article/331fba8ae42c45d880cce5649e067768

المؤلفون: Chen, Jie, Zhang, Zhe, Nie, Ximing, Xu, Yuyuan, Liu, Chunlei, Zhao, Xingquan, Wang, Yongjun

المصدر: Quantitive Imaging in Medicine and Surgery. 12(2)

مصطلحات موضوعية: Susceptibility vessel sign (SVS), basilar artery (BA) occlusion, cardioembolic stroke, quantitative susceptibility mapping (QSM)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/33h4611b

المؤلفون: Chen, Jie, Zhang, Zhe, Nie, Ximing, Xu, Yuyuan, Liu, Chunlei, Zhao, Xingquan, Wang, Yongjun

المصدر: Quantitive Imaging in Medicine and Surgery. 12(1)

مصطلحات موضوعية: Susceptibility vessel sign (SVS), acute ischemic stroke, cardioembolic stroke, magnetic resonance imaging (MRI), quantitative susceptibility mapping (QSM)

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/7dt422mj

المؤلفون: Xubin Yang, Xueyan Chen, Huan Xu, Junwei Chen, Bin Yao, Qiongyan Lin, Hongrong Deng, Wen Xu

المصدر: BMC Endocrine Disorders, Vol 23, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: pHPT, PTH, Ectopic parathyroid gland, SVS, Case report, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1472-6823

URL الوصول: https://doaj.org/article/7471e8fcfec64f17ae9e50c1477342a7

المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, 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, Vivanna M., Lee, Edward B., White, Charles L., III, Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, P. S. P. genetics study group, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., Lee, Wan-Ping

المساهمون: Pathology and Laboratory Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Apolipoprotein E (APOE), Genome-Wide Association Study (GWAS), Progressive Supranuclear Palsy (PSP), Structural Variants (SVs), Whole-Genome Sequencing (WGS)

وصف الملف: application/pdf

Relation: Molecular Neurodegeneration; https://hdl.handle.net/1805/43969

الاتاحة: https://hdl.handle.net/1805/43969

المؤلفون: Wang, Hui, Chang, Timothy S., Dombroski, Beth A., Cheng, Po-Liang, Patil, Vishakha, Valiente-Banuet, Leopoldo, Farrell, Kurt, Mclean, Catriona, Molina-Porcel, Laura, Rajput, Alex, 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, Vivanna M., Lee, Edward B., White, Charles L., III, Morris, Huw, de Silva, Rohan, Crary, John F., Goate, Alison M., Friedman, Jeffrey S., Leung, Yuk Yee, Coppola, Giovanni, Naj, Adam C., Wang, Li-San, P. S. P. genetics study group, Dalgard, Clifton, Dickson, Dennis W., Höglinger, Günter U., Schellenberg, Gerard D., Geschwind, Daniel H., Lee, Wan-Ping

المساهمون: Pathology and Laboratory Medicine, School of Medicine

المصدر: PMC

مصطلحات موضوعية: Progressive Supranuclear Palsy (PSP), Whole-Genome Sequencing (WGS), Genome-Wide Association Study (GWAS), Structural Variants (SVs), Apolipoprotein E (APOE)

وصف الملف: application/pdf

Relation: Molecular Neurodegeneration; https://hdl.handle.net/1805/44603

الاتاحة: https://hdl.handle.net/1805/44603

المؤلفون: Maggi, Jordi, Koller, Samuel, Feil, Silke, Bachmann-Gagescu, Ruxandra, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Maggi, Jordi; Koller, Samuel; Feil, Silke; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Limited Added Diagnostic Value of Whole Genome Sequencing in Genetic Testing of Inherited Retinal Diseases in a Swiss Patient Cohort. International Journal of Molecular Sciences, 25(6540):6540.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), Neuroscience Center Zurich, 570 Life sciences, biology, 610 Medicine & health, Genetics, Genetics (clinical), whole genome sequencing, WGS, whole exome sequencing, WES, added diagnostic value, diagnostic yield, genetic testing, molecular diagnostics, inherited retinal dystrophy, IRD, structural variants, SVs, copy number variants, CNVs, deep-intronic variants

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/260621/1/ZORA_pdf_version_1718882200.pdf; https://www.zora.uzh.ch/id/eprint/260621/6/Manuscript_WGS_Table_S1.pdf; https://www.zora.uzh.ch/id/eprint/260621/7/Manuscript_WGS_Table_S2.pdf; https://www.zora.uzh.ch/id/eprint/260621/8/Manuscript_WGS_Table_S3.pdf; https://www.zora.uzh.ch/id/eprint/260621/9/Manuscript_WGS_Figure_S1.pdf; info:pmid/38928247; urn:issn:1422-0067

الاتاحة: https://www.zora.uzh.ch/id/eprint/260621/
https://www.zora.uzh.ch/id/eprint/260621/1/ZORA_pdf_version_1718882200.pdf
https://www.zora.uzh.ch/id/eprint/260621/6/Manuscript_WGS_Table_S1.pdf
https://www.zora.uzh.ch/id/eprint/260621/7/Manuscript_WGS_Table_S2.pdf
https://www.zora.uzh.ch/id/eprint/260621/8/Manuscript_WGS_Table_S3.pdf
https://www.zora.uzh.ch/id/eprint/260621/9/Manuscript_WGS_Figure_S1.pdf
https://doi.org/10.3390/ijms25126540

المؤلفون: Sung Ho Cho, Sung Ho Jeong, Won Hoon Choi, Sang-Yeon Lee

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 15, p 8149 (2024)

مصطلحات موضوعية: BOR/BO syndrome, whole-genome sequencing (WGS), molecular diagnosis, structural variations (SVs), Biology (General), QH301-705.5, Chemistry, QD1-999

Relation: https://www.mdpi.com/1422-0067/25/15/8149; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067; https://doaj.org/article/1b06b082c5ac443f9a9a4ad11b3e43bb

الاتاحة: https://doi.org/10.3390/ijms25158149
https://doaj.org/article/1b06b082c5ac443f9a9a4ad11b3e43bb

المؤلفون: Lucia Gallego Villarejo, Wanda M. Gerding, Lisa Bachmann, Luzie H. I. Hardt, Stefan Bormann, Huu Phuc Nguyen, Thorsten Müller

المصدر: Cells, Vol 13, Iss 6, p 507 (2024)

مصطلحات موضوعية: optical genome mapping, human induced pluripotent stem cells (hiPSC), cerebral organoids, CRISPR, gene editing, structural variants (SVs), Cytology, QH573-671

Relation: https://www.mdpi.com/2073-4409/13/6/507; https://doaj.org/toc/2073-4409; https://doaj.org/article/ffee5518c4274284ae0832298b5b4eba

الاتاحة: https://doi.org/10.3390/cells13060507
https://doaj.org/article/ffee5518c4274284ae0832298b5b4eba

المؤلفون: Anastasija Solodjankina, Aina Kratovska, Sanita Ponomarjova, Patricija Ivanova, Reza Mohammadian

المصدر: Medicina, Vol 60, Iss 3, p 507 (2024)

مصطلحات موضوعية: primary hyperparathyroidism, selective venous sampling (SVS), parathyroid adenoma, non-invasive imaging, Medicine (General), R5-920

Relation: https://www.mdpi.com/1648-9144/60/3/507; https://doaj.org/toc/1010-660X; https://doaj.org/toc/1648-9144; https://doaj.org/article/ac47d4d2970f4b1dae07bf8a75f2906f

الاتاحة: https://doi.org/10.3390/medicina60030507
https://doaj.org/article/ac47d4d2970f4b1dae07bf8a75f2906f

المؤلفون: Huihua Rao, Haoyi Zhang, Yongyi Zou, Pengpeng Ma, Tingting Huang, Huizhen Yuan, Jihui Zhou, Wan Lu, Qiao Li, Shuhui Huang, Yanqiu Liu, Bicheng Yang

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: recurrent spontaneous abortion (RSA), structural variations (SVs), optical genome mapping (OGM), Oxford Nanopore technology (ONT), balanced reciprocal translocation (BRT), complex chromosomal rearrangement (CCR), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1248755/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/80804f40c5a94b11902623e28a34c012

المؤلفون: Conte, Michael S, Bradbury, Andrew W, Kolh, Philippe, White, John V, Dick, Florian, Fitridge, Robert, Mills, Joseph L, Ricco, Jean-Baptiste, Suresh, Kalkunte R, Murad, M Hassan, Aboyans, Victor, Aksoy, Murat, Alexandrescu, Vlad-Adrian, Armstrong, David, Azuma, Nobuyoshi, Belch, Jill, Bergoeing, Michel, Bjorck, Martin, Chakfé, Nabil, Cheng, Stephen, Dawson, Joseph, Debus, Eike S, Dueck, Andrew, Duval, Susan, Eckstein, Hans H, Ferraresi, Roberto, Gambhir, Raghvinder, Gargiulo, Mauro, Geraghty, Patrick, Goode, Steve, Gray, Bruce, Guo, Wei, Gupta, Prem C, Hinchliffe, Robert, Jetty, Prasad, Komori, Kimihiro, Lavery, Lawrence, Liang, Wei, Lookstein, Robert, Menard, Matthew, Misra, Sanjay, Miyata, Tetsuro, Moneta, Greg, Prado, Jose A Munoa, Munoz, Alberto, Paolini, Juan E, Patel, Manesh, Pomposelli, Frank, Powell, Richard, Robless, Peter, Rogers, Lee, Schanzer, Andres, Schneider, Peter, Taylor, Spence, De Ceniga, Melina V, Veller, Martin, Vermassen, Frank, Wang, Jinsong, Wang, Shenming, GVG Writing Group for the Joint Guidelines of the Society for Vascular Surgery, European Society for Vascular Surgery

المصدر: European Journal of Vascular and Endovascular Surgery. 58(1)

مصطلحات موضوعية: Prevention, Clinical Research, Clinical Trials and Supportive Activities, Cardiovascular, Patient Safety, Good Health and Well Being, Endovascular Procedures, Global Burden of Disease, Humans, International Cooperation, Ischemia, Limb Salvage, Lower Extremity, Peripheral Arterial Disease, Practice Guidelines as Topic, Prevalence, Quality of Life, Severity of Illness Index, Societies, Medical, Specialties, Surgical, Treatment Outcome, Chronic limb-threatening ischemia, Critical limb ischemia, Peripheral artery disease, Diabetes, Foot ulcer, Endovascular intervention, Bypass surgery, Practice guideline, Evidence-based medicine, GVG Writing Group for the Joint Guidelines of the Society for Vascular Surgery (SVS), European Society for Vascular Surgery (ESVS), and World Federation of Vascular Societies, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Cardiovascular System & Hematology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/4vw390fj

المؤلفون: Junping Li (614144), Lin Gao (344965), Yusen Ye (3171294)

مصطلحات موضوعية: Genetics, Developmental Biology, Space Science, Environmental Sciences not elsewhere classified, Biological Sciences not elsewhere classified, Mathematical Sciences not elsewhere classified, Information Systems not elsewhere classified, wide crosslinked chromatin, throughput chromosome capture, structural variation detection, extracted saliency segments, key factors associated, div >< p, c read pairs, 94 novel svs, v , structural variations, saliency map, , wgs method, variant types, total number, technology useful, technology probed, spatial architecture, span megabases, scale svs, real data, rare disease, methods available

Relation: https://figshare.com/articles/journal_contribution/Supplementary_File_/21833654

الاتاحة: https://doi.org/10.1371/journal.pcbi.1010760.s001

المؤلفون: Ludmila Kaplun, Greice Krautz-Peterson, Nir Neerman, Christine Stanley, Shane Hussey, Margo Folwick, Ava McGarry, Shirel Weiss, Alexander Kaplun

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: long read sequencing, structural variants (SVs), orthogonal variant confirmation, clinical genetic testing, whole genome sequencing (WGS), oxford nanopore technologies (ONT), Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1145285/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/a27f30ef73854c9aa94abd4c9389571a

المؤلفون: Akihiro Fujimoto, Jing Hao Wong, Yukiko Yoshii, Shintaro Akiyama, Azusa Tanaka, Hitomi Yagi, Daichi Shigemizu, Hidewaki Nakagawa, Masashi Mizokami, Mihoko Shimada

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-15 (2021)

مصطلحات موضوعية: Long reads, Origin of structural variations (SVs), Germline SVs, Somatic SVs, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1756-994X

URL الوصول: https://doaj.org/article/bc8e6c29eecc44cf9b422cc28d4fda86

المؤلفون: Payal Kadam, Deepali Vora, Sashikala Mishra, Shruti Patil, Ketan Kotecha, Ajith Abraham, Lubna Abdelkareim Gabralla

المصدر: IEEE Access, Vol 10, Pp 122762-122785 (2022)

مصطلحات موضوعية: Video summarization survey, video sequence, single view summarization (SVS), multi view summarization (MVS), big data, Electrical engineering. Electronics. Nuclear engineering, TK1-9971

وصف الملف: electronic resource

Relation: https://ieeexplore.ieee.org/document/9955486/; https://doaj.org/toc/2169-3536

URL الوصول: https://doaj.org/article/402e8387be9e4f1abb920c6527caaacc