المؤلفون: Dake Wen, Ru Yan, Lin Zhang, Haoyang Zhang, Xuyang Chen, Jian Zhou

المصدر: BMC Cancer, Vol 25, Iss 1, Pp 1-21 (2025)

مصطلحات موضوعية: Necroptosis, Acute myeloid leukemia (AML), Necroptosis-related differentially expressed genes(NRDEGs), Regulated cell death (RCD), Copy number variations (CNVs), Neoplasms. Tumors. Oncology. Including cancer and carcinogens, RC254-282

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2407

URL الوصول: https://doaj.org/article/17209b4b29464a028bf25ab51a6f1c92

المؤلفون: Paola Granata, Alessandra Zito, Dario Cocciadiferro, Antonio Novelli, Chiara Pessina, Tommaso Mazza, Matteo Ferri, Paolo Piccinelli, Chiara Luoni, Cristiano Termine, Mauro Fasano, Rosario Casalone

المصدر: BMC Genomics, Vol 25, Iss 1, Pp 1-17 (2024)

مصطلحات موضوعية: Essential autistic spectrum disorder, ASD, Array-comparative genomic hybridization (array-CGH), Copy number variants (CNVs), Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2164

URL الوصول: https://doaj.org/article/872fb87bc0864d7fb98d4d1990882c75

المؤلفون: Spataro, Nino

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Bosch Fusté, Elena

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Mendelian disorders, Complex diseases, Parkinson's disease, Malalties complexes, Malaltia de Parkinson, Mètodes de col.lapse, Copy number variation (CNVs), Malalties mendelianes, Collapsing methods, Variació en el número de còpies

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/482220

المؤلفون: Lo Giacco, Deborah Grazia

المساهمون: University/Department: Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia

Thesis Advisors: Ars Criach, Elisabet, Krausz, Csilla, Nogués Sanmiquel, Carme

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: CNVs, SNPs, Infertilidad, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://hdl.handle.net/10803/129093

المؤلفون: Yan Zhao, Lina Song, Shuxia Zhang, Fei Hou, Shan Shan, Hua Jin

المصدر: Frontiers in Genetics, Vol 15 (2024)

مصطلحات موضوعية: 16p13.11, SNP-array, microduplication, CNVs, prenatal diagnosis, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2024.1486974/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/935f44da9e604d21bcb6673acc1b3125

المؤلفون: Schmitz, Daniel, 1995

المساهمون: Johansson, Åsa, Lappalainen, Tuuli, Professor

المصدر: Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine.

مصطلحات موضوعية: GWAS, NGS, long-read sequencing, mendelian randomization, WGS, CNVs

وصف الملف: electronic

URL الوصول: https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-517196
https://uu-se.zoom.us/j/66605810809
https://uu.diva-portal.org/smash/get/diva2:1817383/FULLTEXT01.pdf
https://uu.diva-portal.org/smash/get/diva2:1817383/PREVIEW01.jpg

المؤلفون: Frédéric J. J. Chain, Britta S. Meyer, Melanie J. Heckwolf, Sören Franzenburg, Christophe Eizaguirre, Thorsten B. H. Reusch

المصدر: Evolutionary Applications, Vol 17, Iss 7, Pp n/a-n/a (2024)

مصطلحات موضوعية: adaptive differentiation, copy number variations (CNVs), DNA methylation, epigenetic regulation, gene duplication, stickleback, Evolution, QH359-425

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1752-4571

URL الوصول: https://doaj.org/article/86cd5e1cd9d640cd98e91a1237d51d38

المؤلفون: Athoi Ganguly, Shaheena Amin, Al-Amin, Farhana Tasnim Chowdhury, Haseena Khan, Mohammad Riazul Islam

المصدر: Journal of Genetic Engineering and Biotechnology, Vol 22, Iss 2, Pp 100376- (2024)

مصطلحات موضوعية: Corchorus olitorius accession no. 2015 (acc. 2015), Corchorus olitorius var. O9897, Single Nucleotide Polymorphisms (SNPs), Insertion Deletions (InDels), Copy Number Variations (CNVs), Gene Ontology (GO), Biotechnology, TP248.13-248.65, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1687157X24000799; https://doaj.org/toc/1687-157X

URL الوصول: https://doaj.org/article/48b12dedad60410186c4940c3c419a94

المؤلفون: Variants, Commission on Novel Technologies for Neurodevelopmental Copy Number, Buttermore, Elizabeth, Chamberlain, Stormy, Cody, Jannine, Costain, Gregory, Dang, Louis, DeWoody, Andrew, DeWoody, Yssa, Dies, Kira, Eichler, Evan, Girirajan, Santhosh, Gramm, Marie, Halladay, Alycia, Lal, Dennis, Lalli, Matthew, Levy, Tess, Logsdon, Glennis, Lowenstein, Daniel, Mefford, Heather, Mulle, Jennifer, Muotri, Alysson, Murphy, Melissa, Palma, Eduardo Perez, Pinter, Stefan, Pollak, Rebecca, Purcell, Ryan, Samaco, Rodney, Shah, Bina, Singh, Karun, So, Joyce, Sundberg, Maria, Veeraragavan, Surabi, Vogel-Farley, Vanessa, Wynshaw-Boris, Anthony

المصدر: American Journal of Human Genetics. 109(8)

مصطلحات موضوعية: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Human Genome, Intellectual and Developmental Disabilities (IDD), Neurosciences, Brain Disorders, DNA Copy Number Variations, Genome, Humans, Neurodevelopmental Disorders, Patient Advocacy, Phenotype, Commission on Novel Technologies for Neurodevelopmental Copy Number Variants, CNVs, biobank, community engagement, copy-number variants, genomic disorders, iPSCs, inclusion, infrastructure, long-read sequencing, neurodevelopment, neurological, patient centered, patient led, structural variants, systematic phenotyping, team science, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/3tc3h13f

المؤلفون: Fetit, Rana

المساهمون: Price, David, Johnstone, Mandy, Pratt, Thomas, Lawrie, Stephen, Theil, Thomas, Mason, John

مصطلحات موضوعية: IPSC, organoids, CNVs, autism, 16p11.2 deletion, interneurons

URL الوصول: https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.862525

المؤلفون: Hoa Thi Phuong Bui, Duong Huy Do, Ha Thi Thanh Ly, Kien Trung Tran, Huong Thi Thanh Le, Kien Trung Nguyen, Linh Thi Dieu Pham, Hau Duc Le, Vinh Sy Le, Arijit Mukhopadhyay, Liem Thanh Nguyen

مصطلحات موضوعية: Genetics, Science Policy, Mental Health, Biological Sciences not elsewhere classified, wide dna microarray, personal development ), fragile x syndrome, exclude rett syndrome, div >< p, detected 1708 non, copy number variations, cnv based test, currently around 10, around 6 %, performed genetic screening, first tier screening, de novo <, autism spectrum disorder, candidate genomic regions, five loss cnvs, 3 females ), identified six cnvs, vietnamese asd patients, around 1, six patients, shank3 <, performed genome, developmental disorder, candidate cnvs, candidate genes

Relation: https://figshare.com/articles/journal_contribution/S1_File_-/25362869

الاتاحة: https://doi.org/10.1371/journal.pone.0290936.s001

المؤلفون: Yanqiu Liu, Shengju Hao, Xueqin Guo, Linlin Fan, Zhihong Qiao, Yaoshen Wang, Xiaoli Wang, Jianfen man, Lina Wang, Xiaoming Wei, Huanhuan Peng, Zhiyu Peng, Yan Sun, Lijie Song

المصدر: BMC Medical Genomics, Vol 16, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: Low pass genome sequencing, Mosaic CNVs, Mosaic aneuploidies, Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1755-8794

URL الوصول: https://doaj.org/article/7532e7768835453c8d80315189966453

المؤلفون: Fagui Yue, Xiao Yang, Ning Liu, Ruizhi Liu, Hongguo Zhang

المصدر: Frontiers in Medicine, Vol 11 (2024)

مصطلحات موضوعية: fetal ventriculomegaly, chromosomal microarray analysis, prenatal diagnosis, pregnancy outcomes, hotspot CNVs, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fmed.2024.1349171/full; https://doaj.org/toc/2296-858X

URL الوصول: https://doaj.org/article/8d7f4285353244e2979c2c38c4a6eff2

المؤلفون: Saus Martínez, Ester

المساهمون: University/Department: Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Thesis Advisors: Gratacós Mayora, Mònica, Estivill, Xavier

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: gens candidats, ritmes circadians, trastorns afectius, trastorns psiquiàtrics, susceptibilitat genètica, variabilitat genòmica, candidate genes, SNPs, CNVs, microRNAs, circadian rhythms, genetic susceptibility, psychiatric disorders, mood disorders, genomic variability

وصف الملف: application/pdf

URL الوصول: http://www.tdx.cat/TDX-0207111-142731
http://hdl.handle.net/10803/7221

المؤلفون: Madrigal Bajo, Irene

المساهمون: University/Department: Universitat de Barcelona. Departament de Medicina

Thesis Advisors: Badenas Orquin, Celia, Milà i Recasens, Montserrat

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Retard mental, Variació en nombre de còpia (CNVs), Inestabilitat (Genètica), Mutacions (Genètica), Duplicacions segmentàries (DS), Genómica, Ciències de la Salut

وصف الملف: application/pdf

URL الوصول: http://www.tdx.cat/TDX-0619108-114259
http://hdl.handle.net/10803/2242

المؤلفون: Lin Chen, Li Wang, Yang Zeng, Daishu Yin, Feng Tang, Dan Xie, Hongmei Zhu, Hongqian Liu, Jing Wang

المصدر: BMC Pregnancy and Childbirth, Vol 23, Iss 1, Pp 1-10 (2023)

مصطلحات موضوعية: Noninvasive prenatal screening (NIPS), Extended noninvasive prenatal screening, Pathogenic/likely pathogenic copy number variants (P/LP CNVs), Fetus, Invasive prenatal diagnosis, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1471-2393

URL الوصول: https://doaj.org/article/df38eaeb8c404d14932f6d051ead68ec

المؤلفون: Daisy J. A. Oketch, Matteo Giulietti, Francesco Piva

المصدر: Biomedicines, Vol 12, Iss 8, p 1759 (2024)

مصطلحات موضوعية: pancreatic ductal adenocarcinoma (PDAC), single-cell RNA sequencing (scRNA-seq), copy number variations (CNVs), Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2227-9059/12/8/1759; https://doaj.org/toc/2227-9059

URL الوصول: https://doaj.org/article/6c6bb0fede4f469fa51f77414eeb4170

المؤلفون: Demidov, German, Yaldiz, Burcu, Garcia-Pelaez, José, de Boer, Elke, Schuermans, Nika, Van de Vondel, Liedewei, Paramonov, Ida, Johansson, Lennart F., Musacchia, Francesco, Benetti, Elisa, Bullich, Gemma, Sablauskas, Karolis, Beltran, Sergi, Gilissen, Christian, Hoischen, Alexander, Ossowski, Stephan, de Voer, Richarda, Lohmann, Katja, Oliveira, Carla, Topf, Ana, Vissers, Lisenka E. L. M., SOLVE-RD consortium, Riess, Olaf, Haack, Tobias B., Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Sturm, Marc, Park, Joohyun, Schütz, Leon, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kellner, Melanie, Resch, Baptist, Kolen, Ingrid, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Beijer, Danique, Heutink, Peter, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Boßelmann, Christian, Kegele, Josua, Lauerer-Braun, Robert, Lauxmann, Stephan, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ’t Hoen, Peter A. C., Steyaert, Wouter, Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Neveling, Kornelia, van der Sanden, Bart, Sagath, Lydia, Kleefstra, Tjitske, Brookes, Anthony J., Gibson, Spencer, Riaz, Umar, Warren, Greg, Nalagandla, Sai Anuhya, Wang, Yunze Patrick, Sukumaran, Deepthi, Abadijou, Sadegh, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Clayton-Smith, Jill, Banka, Siddharth, Alexander, Elizabeth, Jackson, Adam, Faivre, Laurence, Thauvin, Christel, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Duffourd, Yannis, Bruel, Ange-Line, Couturier, Victor, Gut, Ivo Glynne, Piscia, Davide, Matalonga, Leslie, Papakonstantinou, Anastasios, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Codina, Anna Esteve, Dabad, Marc, Gut, Marta, Raineri, Emanuele, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lucano, Caterina, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Nelson, Isabelle, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Cohen, Enzo, Atalaia, Antonio, Stojkovic, Tanya, Macek, Milan, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Ryba, Lukáš, Lišková, Petra, Doležalová, Pavla, Krebsová, Alice, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robinson, Peter, Danis, Daniel, Robert, Glenn, Costa, Alessia, Hanna, Mike, Houlden, Henry, Reilly, Mary, Vandrovcova, Jana, Efthymiou, Stephanie, Morsy, Heba, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Bellampalli, Ravishankara, Moloney, Patrick, Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Perry, Luke, Pini, Veronica, Müller, Juliane, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, de Jonghe, Peter, De Ridder, Willem, Weckhuysen, Sarah, Stamberger, Hannah, Millevert, Charissa, Smal, Noor, Nigro, Vincenzo, Morleo, Manuela, Pinelli, Michele, Banfi, Sandro, Torella, Annalaura, Zeuli, Roberta, Zanobio, Mariateresa, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Barbosa-Matos, Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., van der Velde, Joeri K., van der Vries, Gerben, Neerincx, Pieter B., Roelofs-Prins, Dieuwke, Ruvolo, David, van Gijn, Marielle, Abbott, Kristin M., Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Köhler, Sebastian, Metcalfe, Alison, Moore, Richard, Verloes, Alain, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, de Sainte Agathe, Jean-Madeleine, Jamra, Rami Abou, Abramowicz, Marc, Kiliçarslan, Özge Aksel, Allen, Nicholas, Javier Alonso García de la Rosa, Francisco, Balestrini, Simona, Balicza, Peter, Bartolomaeus, Tobias, Başak, Ayşe Nazl, Masó, Laura Batlle, Beeson, David, Benoit, Valerie, Benson, Katherine, Sánchez, Eva Bermejo, Bijlsma, Emilia K., Bogaert, Elke, Bourbouli, Mara, Boztug, Kaan, Brohée, Sylvain, Byrne, Susan, Garcia de Oteyza, Andrés Caballero, Capella, Gabriel, Carpancea, Evelina, Cavalleri, Gianpiero, Cazurro-Gutiérrez, Ana, Chinnery, Patrick F., Cilio, Maria-Roberta, Ciolfi, Andrea, Claeys, Kristl, Colobran, Roger, Cordts, Isabell, Cossins, Judith, Dahan, Karin, Dallapiccola, Bruno, Delanty, Norman, Depienne, Christel, Depondt, Chantal, Dermaut, Bart, Deschauer, Marcus, Desir, Julie, Destrée, Anne, Drakos, Minas, Duerinckx, Sarah, Estevez, Berta, Evangeliou, Athanasios, Fallerini, Chiara, Ferilli, Marco, Furini, Simone, Gagneur, Julien, Ghani, Hamidah, Greally, Marie, Grimbacher, Bodo, Guerrini, Renzo, Hackman, Peter, Haimel, Matthias, Bouveret, Eva Hammar, Hemelsoet, Dimitri, Herzog, Rebecca, Hoffer, Mariette J. V., Holinski-Feder, Elke, Horvath, Rita, Huibers, Manon, Iacomino, Michele, Johari, Mridul, Kapaki, Elisabeth, Karadurmus, Deniz, Karakaya, Mert, Kokosali, Evgenia, Korff, Christian, Krass, Leon, Lacombe, Didier, Laner, Andreas, Leavis, Helen, Lederer, Damien, Leitão, Elsa, Lochmüller, Hanns, Martín, Estrella López, Luknárová, Rebeka, Macaya, Alfons, Malaichamy, Sivasankar, Marcé-Grau, Anna, Delgado, Beatriz Martínez, Mary, Sandrine, Masclaux, Frédéric, Mathioudakis, Lambros, Maver, Ales, MAY, Patrick, Maystadt, Isabelle, Mei, Davide, Mertes, Christian, Meunier, Colombine, Molnar, Maria Judit, Monestier, Olivier, Moortgat, Stéphanie, Münchau, Alexander, Munell, Francina, Osorio, Andrés Nascimento, de Benito, Daniel Natera, Reghan, Mary O., Olimpio, Catarina, Parrini, Elena, Pauly, Martje, Pérez-Dueñas, Belén, Peterlin, Borut, Platzer, Konrad, Polavarapu, Kiran, Poppe, Bruce, De la Paz, Manuel Posada, Privitera, Flavia, Radio, Francesca Clementina, Ratnaike, Thiloka, Renieri, Alessandra, Riva, Antonella, Rooryck, Caroline, Roos, Andreas, Ruivenkamp, Claudia A. L., Rump, Andreas, Santen, Gijs W. E., Savarese, Marco, Scala, Marcello, Schon, Katherine, Schröck, Evelin, Scudieri, Paolo, Spilioti, Martha, Steinke-Lange, Verena, Striano, Pasquale, Sznajer, Yves, Tartaglia, Marco, Thompson, Rachel, Trimouille, Aurelien, Udd, Bjarne, Uva, Paolo, Valle, Laura, van der Veken, Lars, van Heurck, Roxane, van Montfrans, Joris, Van Nieuwenhove, Erika, Verdin, Hannah, Webb, David, Wirth, Brunhilde, Yépez, Vicente A., Zaganas, Ioannis, Zara, Federico, Zguro, Kristina, Laurie, Steven

المساهمون: Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group)

المصدر: npj Genomic Medicine, 9 (1) (2024-10-26)

مصطلحات موضوعية: CNVs, Exome sequencing, Rare diseases, Human health sciences, Life sciences, Genetics & genetic processes, Sciences de la santé humaine, Sciences du vivant, Génétique & processus génétiques

Relation: https://www.nature.com/articles/s41525-024-00436-6.pdf; urn:issn:2056-7944; https://orbilu.uni.lu/handle/10993/62319; info:hdl:10993/62319; https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf

الاتاحة: https://orbilu.uni.lu/handle/10993/62319
https://orbilu.uni.lu/bitstream/10993/62319/1/Demidov2024.GenomicMedicine.pdf
https://doi.org/10.1038/s41525-024-00436-6

المؤلفون: Camilla Meossi, Alessia Carrer, Claudia Ciaccio, Laura Pezzoli, Lidia Pezzani, Rosa Maria Silipigni, Francesca L. Sciacca, Romano Tenconi, Silvia Esposito, Arianna De Laurentiis, Chiara Pantaleoni, Paola Marchisio, Federica Natacci, Stefano D’Arrigo, Maria Iascone, Donatella Milani

المصدر: Genes ; Volume 15 ; Issue 11 ; Pages: 1441

مصطلحات موضوعية: 15q11.2 microdeletion, 15q11.2 microduplication, BP1-BP2 CNVs, exome sequencing, alternative diagnosis, double diagnosis, rare diseases

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes15111441

الاتاحة: https://doi.org/10.3390/genes15111441

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