المؤلفون: Berger Wolfgang, Ackermann-Liebrich Ursula, Zemp Elisabeth, Brändli Otto, von Eckardstein Arnold, Imboden Medea, Schindler Christian, Russi Erich W, Senn Oliver, Rochat Thierry, Luisetti Maurizio, Probst-Hensch Nicole M

المصدر: Respiratory Research, Vol 9, Iss 1, p 35 (2008)

مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://respiratory-research.com/content/9/1/35; https://doaj.org/toc/1465-9921

URL الوصول: https://doaj.org/article/7c46d457a2e54c7aa083480225a7eff6

المؤلفون: Ackermann-Liebrich Ursula, Schindler Christian, Russi Erich W, Brändli Otto, Matyas Gabor, Senn Oliver, Downs Sara H, Imboden Medea, Berger Wolfgang, Probst-Hensch Nicole M

المصدر: Respiratory Research, Vol 8, Iss 1, p 2 (2007)

مصطلحات موضوعية: Diseases of the respiratory system, RC705-779

وصف الملف: electronic resource

Relation: http://respiratory-research.com/content/8/1/2; https://doaj.org/toc/1465-9921

URL الوصول: https://doaj.org/article/1ce945f99afc43debed13d2368dfb901

المؤلفون: Pieper, Claudia, Kaistha, Florian Tim Hitesh, Schröer, Sarah, Borgert, Maria, Michalsen, Andreas, Mayer-Berger, Wolfgang

مصطلحات موضوعية: ScholarlyArticle, ddc:610, Medizinische Fakultät » Universitätsklinikum Essen » Institut für Medizinische Informatik, Biometrie und Epidemiologie, Intermittent fasting -- Weight loss -- Effectiveness -- Acceptance -- Randomized controlled trial -- Rehabilitation -- Prevention

الاتاحة: https://doi.org/10.1186/s13063-023-07843-7
https://nbn-resolving.org/urn:nbn:de:hbz:465-20250114-140005-5
https://duepublico2.uni-due.de/receive/duepublico_mods_00082286
https://duepublico2.uni-due.de/servlets/MCRFileNodeServlet/duepublico_derivate_00082435/s13063-023-07843-7.pdf

المؤلفون: Maggi, Jordi, Feil, Silke, Gloggnitzer, Jiradet, Maggi, Kevin, Hanson, James V.M., Koller, Samuel, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Genes, 15 (12)

مصطلحات موضوعية: ABCA4, Stargardt disease, deep-intronic variant, complex allele, pseudoexon, antisense oligonucleotide, rescue, splicing, minigene, retinal organoid

وصف الملف: application/application/pdf

Relation: http://hdl.handle.net/20.500.11850/713499

الاتاحة: https://hdl.handle.net/20.500.11850/713499
https://doi.org/10.3929/ethz-b-000713499

المؤلفون: Patel, Aara, Pauzuolyte, Valda, Ingham, Neil J, Leong, Yeh Chwan, Berger, Wolfgang, Steel, Karen P, Sowden, Jane C

المصدر: Patel, Aara; Pauzuolyte, Valda; Ingham, Neil J; Leong, Yeh Chwan; Berger, Wolfgang; Steel, Karen P; Sowden, Jane C (2024). Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease. Proceedings of the National Academy of Sciences of the United States of America, 121(49):e2322124121.

مصطلحات موضوعية: Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/267048/1/Patel_et_al_PNAS_2024.pdf; info:pmid/39585982; urn:issn:0027-8424

الاتاحة: https://www.zora.uzh.ch/id/eprint/267048/
https://www.zora.uzh.ch/id/eprint/267048/1/Patel_et_al_PNAS_2024.pdf
https://doi.org/10.1073/pnas.2322124121

المؤلفون: Atac, David, Maggi, Kevin, Feil, Silke, Maggi, Jordi, Cuevas, Elisa, Sowden, Jane C, Koller, Samuel, Berger, Wolfgang

المصدر: Atac, David; Maggi, Kevin; Feil, Silke; Maggi, Jordi; Cuevas, Elisa; Sowden, Jane C; Koller, Samuel; Berger, Wolfgang (2024). Identification and Characterization of ATOH7-Regulated Target Genes and Pathways in Human Neuroretinal Development. Cells, 13(13):1142.

مصطلحات موضوعية: Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/267049/1/Atac_et_al_2024_v2.pdf; info:pmid/38994994; urn:issn:2073-4409

الاتاحة: https://www.zora.uzh.ch/id/eprint/267049/
https://www.zora.uzh.ch/id/eprint/267049/1/Atac_et_al_2024_v2.pdf
https://doi.org/10.3390/cells13131142

المؤلفون: Maggi, Jordi, Hanson, James V M, Kurmann, Lisa, Koller, Samuel, Feil, Silke, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Maggi, Jordi; Hanson, James V M; Kurmann, Lisa; Koller, Samuel; Feil, Silke; Gerth-Kahlert, Christina; Berger, Wolfgang (2024). Retinal Dystrophy Associated with Homozygous Variants in NRL. Genes, 15(12):1594.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), 570 Life sciences, biology, 610 Medicine & health, Genetics, genetics (clinical), NRL, retinal dystrophy, retinitis pigmentosa, splicing, uniparental disomy

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/266543/1/ZORA_266543.pdf; info:pmid/39766861; urn:issn:2073-4425

الاتاحة: https://www.zora.uzh.ch/id/eprint/266543/
https://www.zora.uzh.ch/id/eprint/266543/1/ZORA_266543.pdf
https://doi.org/10.3390/genes15121594

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

المصدر: Maggi, Jordi; Feil, Silke; Gloggnitzer, Jiradet; Maggi, Kevin; Bachmann-Gagescu, Ruxandra; Gerth-Kahlert, Christina; Koller, Samuel; Berger, Wolfgang (2024). Nanopore Deep Sequencing as a Tool to Characterize and Quantify Aberrant Splicing Caused by Variants in Inherited Retinal Dystrophy Genes. International Journal of Molecular Sciences, 25(17):9569.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Institute of Molecular Life Sciences, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), Neuroscience Center Zurich, 610 Medicine & health, 570 Life sciences, biology, Genetics, Genetics (clinical), splicing, splice variant, Nanopore, pseudoexon, minigene assay, exon skipping, inherited retinal dystrophies (IRDs), long-read sequencing

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/262234/1/ijms_25_09569_v2.pdf; https://www.zora.uzh.ch/id/eprint/262234/2/Manuscript_Figure_S3.pdf; https://www.zora.uzh.ch/id/eprint/262234/3/Manuscript_Table_S1_3.pdf; https://www.zora.uzh.ch/id/eprint/262234/4/Manuscript_Table_S4.pdf; https://www.zora.uzh.ch/id/eprint/262234/5/Manuscript_Table_S5.pdf; https://www.zora.uzh.ch/id/eprint/262234/6/Manuscript_Table_S6_7.pdf; https://www.zora.uzh.ch/id/eprint/262234/7/Manuscript_Table_S8.pdf; https://www.zora.uzh.ch/id/eprint/262234/8/Supplementary_Figure_S1.pdf; https://www.zora.uzh.ch/id/eprint/262234/9/Supplementary_Figure_S2.pdf; info:pmid/39273516; urn:issn:1422-0067

الاتاحة: https://www.zora.uzh.ch/id/eprint/262234/
https://www.zora.uzh.ch/id/eprint/262234/1/ijms_25_09569_v2.pdf
https://www.zora.uzh.ch/id/eprint/262234/2/Manuscript_Figure_S3.pdf
https://www.zora.uzh.ch/id/eprint/262234/3/Manuscript_Table_S1_3.pdf
https://www.zora.uzh.ch/id/eprint/262234/4/Manuscript_Table_S4.pdf
https://www.zora.uzh.ch/id/eprint/262234/5/Manuscript_Table_S5.pdf
https://www.zora.uzh.ch/id/eprint/262234/6/Manuscript_Table_S6_7.pdf
https://www.zora.uzh.ch/id/eprint/262234/7/Manuscript_Table_S8.pdf
https://www.zora.uzh.ch/id/eprint/262234/8/Supplementary_Figure_S1.pdf
https://www.zora.uzh.ch/id/eprint/262234/9/Supplementary_Figure_S2.pdf

المؤلفون: Kraemer, Dennis, Terumalai, Dillenn, Famiglietti, Maria Livia, Filges, Isabel, Joset, Pascal, Koller, Samuel, Maurer, Fabienne, Meier, Stéphanie, Nouspikel, Thierry, Sanz, Javier, Zweier, Christiane, Abramowicz, Marc, Berger, Wolfgang, Cichon, Sven, Schaller, André, Superti-Furga, Andrea, Barbié, Valérie, Rauch, Anita

المصدر: Kraemer, Dennis; Terumalai, Dillenn; Famiglietti, Maria Livia; Filges, Isabel; Joset, Pascal; Koller, Samuel; Maurer, Fabienne; Meier, Stéphanie; Nouspikel, Thierry; Sanz, Javier; Zweier, Christiane; Abramowicz, Marc; Berger, Wolfgang; Cichon, Sven; Schaller, André; Superti-Furga, Andrea; Barbié, Valérie; Rauch, Anita (2024). SwissGenVar: A Platform for Clinical-Grade Interpretation of Genetic Variants to Foster Personalized Healthcare in Switzerland. Journal of Personalized Medicine, 14(6):648.

مصطلحات موضوعية: Institute of Medical Genetics, Institute of Medical Molecular Genetics, Zurich Center for Integrative Human Physiology (ZIHP), Neuroscience Center Zurich, 610 Medicine & health, 570 Life sciences, biology, Genetics, Genetics (clinical), SwissGenVar, Switzerland, NGS, expert-curated variant interpretation, national mutation database, genotype–phenotype database, personalized medicine, clinical decision making

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/260440/6/jpm_14_00648.pdf; info:pmid/38929869; urn:issn:2075-4426

الاتاحة: https://www.zora.uzh.ch/id/eprint/260440/
https://www.zora.uzh.ch/id/eprint/260440/6/jpm_14_00648.pdf
https://doi.org/10.3390/jpm14060648

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: Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E, Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A, Ten Brink, Jacoline B, Klaver, Caroline C W, Tranebjærg, Lisbeth, Rendtorff, Nanna D, Vermeer, Sascha, Smits, Jeroen J, Pennings, Ronald J E, Aben, Marco, Oostrik, Jaap, Astuti, Galuh D N, Corominas Galbany, Jordi, Kroes, Hester Y, Phan, Milan, van Zelst-Stams, Wendy A G, Thiadens, Alberta A H J, Verheij, Joke B G M, van Schooneveld, Mary J, de Bruijn, Suzanne E, Li, Catherina H Z, Hoyng, Carel B, Gilissen, Christian, Vissers, Lisenka E L M, Cremers, Frans P M, Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne

المساهمون: Reurink, Janine, Weisschuh, Nicole, Garanto, Alejandro, Dockery, Adrian, van den Born, L Ingeborgh, Fajardy, Isabelle, Haer-Wigman, Lonneke, Kohl, Susanne, Wissinger, Bernd, Farrar, G Jane, Ben-Yosef, Tamar, Pfiffner, Fatma Kivrak, Berger, Wolfgang, Weener, Marianna E, Dudakova, Lubica, Liskova, Petra, Sharon, Dror, Salameh, Manar, Offenheim, Ashley, Heon, Elise, Girotto, Giorgia, Gasparini, Paolo, Morgan, Anna, Bergen, Arthur A, Ten Brink, Jacoline B, Klaver, Caroline C W, Tranebjærg, Lisbeth, Rendtorff, Nanna D, Vermeer, Sascha, Smits, Jeroen J, Pennings, Ronald J E, Aben, Marco, Oostrik, Jaap, Astuti, Galuh D N, Corominas Galbany, Jordi, Kroes, Hester Y, Phan, Milan, van Zelst-Stams, Wendy A G, Thiadens, Alberta A H J, Verheij, Joke B G M, van Schooneveld, Mary J, de Bruijn, Suzanne E, Li, Catherina H Z, Hoyng, Carel B, Gilissen, Christian, Vissers, Lisenka E L M, Cremers, Frans P M, Kremer, Hannie, van Wijk, Erwin, Roosing, Susanne

مصطلحات موضوعية: USH2A, Usher syndrome, antisense oligonucleotide, minigene splice assay, photoreceptor precursor cell, pseudoexon, retinitis pigmentosa, splicing, usherin, whole genome sequencing

وصف الملف: ELETTRONICO

Relation: info:eu-repo/semantics/altIdentifier/pmid/36785559; info:eu-repo/semantics/altIdentifier/wos/WOS:000932292800001; volume:4; issue:2; firstpage:"-"; lastpage:"-"; numberofpages:16; journal:HGG ADVANCES; https://hdl.handle.net/11368/3072441; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85147338454; https://www.sciencedirect.com/science/article/pii/S2666247723000131?via=ihub; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918427/

الاتاحة: https://hdl.handle.net/11368/3072441
https://doi.org/10.1016/j.xhgg.2023.100181
https://www.sciencedirect.com/science/article/pii/S2666247723000131?via=ihub
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9918427/

المؤلفون: Knöpfel, Emilia Boiadjieva, Vilches, Clara, Camargo, Simone MR, Errasti-Murugarren, Ekaitz, Stäubli, Andrina, Mayayo, Clara, Munier, Francis L, Miroshnikova, Nataliya, Poncet, Nadège, Junza, Alexandra, Bhattacharya, Shomi S, Prat, Esther, Berry, Vanita, Berger, Wolfgang, Heon, Elise, Moore, Anthony T, Yanes, Óscar, Nunes, Virginia, Palacín, Manuel, Verrey, Francois, Kloeckener-Gruissem, Barbara

مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Eye Disease and Disorders of Vision, Aging, Congenital Structural Anomalies, Pediatric, Genetics, 2.1 Biological and endogenous factors, Aetiology, amino acid transporters LAT2 and TAT1, gene expression, cataract, ocular tissues, mouse model, patient screen, Physiology, Medical Physiology, Psychology, Biochemistry and cell biology, Medical physiology

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8zv5p0pd
https://escholarship.org/content/qt8zv5p0pd/qt8zv5p0pd.pdf

المؤلفون: Delas, Flora, Koller, Samuel, Feil, Silke, Dacheva, Ivanka, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Delas, Flora; Koller, Samuel; Feil, Silke; Dacheva, Ivanka; Gerth-Kahlert, Christina; Berger, Wolfgang (2023). Novel CRYGC Mutation in Conserved Ultraviolet-Protective Tryptophan (p.Trp131Arg) Is Linked to Autosomal Dominant Congenital Cataract. International Journal of Molecular Sciences, 24(23):16594.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Molecular Genetics, 610 Medicine & health, Inorganic Chemistry, Organic Chemistry, Physical and Theoretical Chemistry, Computer Science Applications, Spectroscopy, Molecular Biology, General Medicine, Catalysis

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/239137/1/ZORA_pdf_version_1700636595.pdf; urn:issn:1422-0067

الاتاحة: https://www.zora.uzh.ch/id/eprint/239137/
https://www.zora.uzh.ch/id/eprint/239137/1/ZORA_pdf_version_1700636595.pdf
https://doi.org/10.3390/ijms242316594

المؤلفون: Stafki, Seth A, Turner, Johnnie, Littel, Hannah R, Bruels, Christine C, Truong, Don, Knirsch, Ursula, Stettner, Georg M, Graf, Urs, Berger, Wolfgang, Kinali, Maria, Jungbluth, Heinz, Pacak, Christina A, Hughes, Jayne, Mirchi, Amytice, Derksen, Alexa, Vincent-Delorme, Catherine, Theil, Arjan F, Bernard, Geneviève, Ellis, David, Fassihi, Hiva, Lehmann, Alan R, Laugel, Vincent, Mohammed, Shehla, Kang, Peter B

المصدر: Stafki, Seth A; Turner, Johnnie; Littel, Hannah R; Bruels, Christine C; Truong, Don; Knirsch, Ursula; Stettner, Georg M; Graf, Urs; Berger, Wolfgang; Kinali, Maria; Jungbluth, Heinz; Pacak, Christina A; Hughes, Jayne; Mirchi, Amytice; Derksen, Alexa; Vincent-Delorme, Catherine; Theil, Arjan F; Bernard, Geneviève; Ellis, David; Fassihi, Hiva; Lehmann, Alan R; Laugel, Vincent; Mohammed, Shehla; Kang, Peter B (2023). The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome. Pediatric Neurology, 141:79-86.

مصطلحات موضوعية: Medical Clinic, Institute of Medical Molecular Genetics, 610 Medicine & health, 570 Life sciences, biology

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/237186/1/Stafki_et_al_2023.pdf; info:pmid/36791574; urn:issn:0887-8994

الاتاحة: https://www.zora.uzh.ch/id/eprint/237186/
https://www.zora.uzh.ch/id/eprint/237186/1/Stafki_et_al_2023.pdf
https://doi.org/10.1016/j.pediatrneurol.2023.01.011

المؤلفون: Koller, Samuel, Beltraminelli, Tim, Maggi, Jordi, Wlodarczyk, Agnès, Feil, Silke, Baehr, Luzy, Gerth-Kahlert, Christina, Menghini, Moreno, Berger, Wolfgang

المصدر: Koller, Samuel; Beltraminelli, Tim; Maggi, Jordi; Wlodarczyk, Agnès; Feil, Silke; Baehr, Luzy; Gerth-Kahlert, Christina; Menghini, Moreno; Berger, Wolfgang (2023). Functional Analysis of a Novel, Non-Canonical RPGR Splice Variant Causing X-Linked Retinitis Pigmentosa. Genes, 14(4):934.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical), Genetics

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/233089/1/ZORA_pdf_version_1681807951.pdf; info:pmid/37107692; urn:issn:2073-4425

الاتاحة: https://www.zora.uzh.ch/id/eprint/233089/
https://www.zora.uzh.ch/id/eprint/233089/1/ZORA_pdf_version_1681807951.pdf
https://doi.org/10.3390/genes14040934

المؤلفون: de Bruijn, Suzanne E, Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S, Berger, Wolfgang

المصدر: de Bruijn, Suzanne E; Rodenburg, Kim; Corominas, Jordi; Ben-Yosef, Tamar; Reurink, Janine; Kremer, Hannie; Whelan, Laura; Plomp, Astrid S; Berger, Wolfgang; et al (2023). Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes. Genetics in Medicine, 25(3):100345.

مصطلحات موضوعية: Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health, Genetics (clinical)

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/225540/1/1_s2.0_S1098360022010292_main.pdf; info:pmid/36524988; urn:issn:1098-3600

الاتاحة: https://www.zora.uzh.ch/id/eprint/225540/
https://www.zora.uzh.ch/id/eprint/225540/1/1_s2.0_S1098360022010292_main.pdf
https://doi.org/10.1016/j.gim.2022.11.013

المؤلفون: Pauzuolyte, Valda, Patel, Aara, Wawrzynski, James R, Ingham, Neil J, Leong, Yeh Chwan, Karda, Rajvinder, Bitner‐Glindzicz, Maria, Berger, Wolfgang, Waddington, Simon N, Steel, Karen P, Sowden, Jane C

المصدر: Pauzuolyte, Valda; Patel, Aara; Wawrzynski, James R; Ingham, Neil J; Leong, Yeh Chwan; Karda, Rajvinder; Bitner‐Glindzicz, Maria; Berger, Wolfgang; Waddington, Simon N; Steel, Karen P; Sowden, Jane C (2023). Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease. EMBO Molecular Medicine, 15(10):e17393.

مصطلحات موضوعية: Institute of Medical Molecular Genetics, 610 Medicine & health, 570 Life sciences, biology, Molecular Medicine

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/237183/1/EMBO_Mol_Med___2023___Pauzuolyte.pdf; info:pmid/37642150; urn:issn:1757-4676

الاتاحة: https://www.zora.uzh.ch/id/eprint/237183/
https://www.zora.uzh.ch/id/eprint/237183/1/EMBO_Mol_Med___2023___Pauzuolyte.pdf
https://doi.org/10.15252/emmm.202317393

المؤلفون: de Bruijn, Suzanne E., Rodenburg, Kim, Corominas, Jordi, Ben-Yosef, Tamar, Reurink, Janine, Kremer, Hannie, Whelan, Laura, Plomp, Astrid S., Berger, Wolfgang, Farrar, G. Jane, Kovács, Árpád Ferenc, Fajardy, Isabelle, Hitti-Malin, Rebekkah J., Weisschuh, Nicole, Weener, Marianna E., Sharon, Dror, Pennings, Ronald J.E., Haer-Wigman, Lonneke, Hoyng, Carel B., Nelen, Marcel R.

المصدر: Genetics in Medicine, 25 (3)

مصطلحات موضوعية: Inherited retinal diseases, Optical genome mapping, Next-generation sequencing, Short-read genome sequencing, Structural variants

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/001037209300001; http://hdl.handle.net/20.500.11850/601190

الاتاحة: https://hdl.handle.net/20.500.11850/601190
https://doi.org/10.3929/ethz-b-000601190

المؤلفون: Stafki, Seth A., Turner, Johnnie, Littel, Hannah R., Bruels, Christine C., Truong, Don, Knirsch, Ursula, Stettner, Georg M., Graf, Urs, Berger, Wolfgang, Kinali, Maria, Jungbluth, Heinz, Pacak, Christina A., Hughes, Jayne, Mirchi, Amytice, Derksen, Alexa, Vincent-Delorme, Catherine, Theil, Arjan F., Bernard, Geneviève, Ellis, David, Fassihi, Hiva

المصدر: Pediatric Neurology, 141

مصطلحات موضوعية: Cockayne syndrome, MORC2, DNA repair, Microcephaly

وصف الملف: application/application/pdf

Relation: info:eu-repo/semantics/altIdentifier/wos/000944477400001; http://hdl.handle.net/20.500.11850/599399

الاتاحة: https://hdl.handle.net/20.500.11850/599399
https://doi.org/10.3929/ethz-b-000599399

المؤلفون: Berger, Wolfgang A.

مصطلحات موضوعية: Quantum Physics

URL الوصول: http://arxiv.org/abs/1507.05759