المؤلفون: Courage, Carolina, Jackson, Christopher B., Owczarek-Lipska, Marta, Jamsheer, Aleksander, Sowinska-Seidler, Anna, Piotrowicz, Małgorzata, Jakubowski, Lucjusz, Dallèves, Fanny, Riesch, Erik, Neidhardt, John, Lemke, Johannes R.

مصطلحات موضوعية: FGFR1, fibroblast growth factor receptor 1, gonadal mosaicism, Hartsfield syndrome,holoprosencephaly, info:eu-repo/classification/ddc/610, ddc:610

الإتاحة: https://ul.qucosa.de/id/qucosa%3A86116Test
https://ul.qucosa.de/api/qucosa%3A86116/attachment/ATT-0Test/

المؤلفون: Amin, Muhammad Usman, Jüschke, Christoph, Song, Fei, Kastrati, Dennis, Owczarek-Lipska, Marta, Eilers, Jannis, Pauleikhoff, Laurenz, Lange, Clemens, Neidhardt, John

المصدر: Life science alliance. - 6, 10 (2023) , e202201814, ISSN: 2575-1077

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/238574Test

الإتاحة: https://doi.org/10.26508/lsa.202201814Test
https://freidok.uni-freiburg.de/data/238574Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-2385742Test
https://freidok.uni-freiburg.de/dnb/download/238574Test

المؤلفون: Owczarek-Lipska, Marta Magdalena.

المصدر: Volltext Abstract.

الإتاحة: http://www.zb.unibe.ch/download/eldiss/09owczarek_m.pdfTest
http://www.zb.unibe.ch/download/eldiss/09owczarek_mabs.pdfTest
http://nbn-resolving.de/urn/resolver.pl?urn=urn:nbn:ch:bel-132041Test

المؤلفون: Markus, Fenja, Kannengießer, Annika, Näder, Patricia, Atigbire, Paul, Scholten, Alexander, Vössing, Christine, Bültmann, Eva, Korenke, G. Christoph, Owczarek-Lipska, Marta, Neidhardt, John

المصدر: http://lobid.org/resources/99370674607706441Test#!, 66(12):1159-1167.

مصطلحات موضوعية: Microtubule-Associated Proteins/chemistry [MeSH], Neurodevelopmental Disorders/diagnosis [MeSH], Structure-Activity Relationship [MeSH], Cilia/metabolism [MeSH], DNA Mutational Analysis [MeSH], Mutation, Missense [MeSH], Neurodevelopmental Disorders/genetics [MeSH], Protein Conformation [MeSH], Models, Molecular [MeSH], Microtubule-Associated Proteins/metabolism [MeSH], Malformations of Cortical Development/diagnosis [MeSH], Male [MeSH], Phenotype [MeSH], Child [MeSH], Fibroblasts/metabolism [MeSH], Malformations of Cortical Development/genetics [MeSH], Genetic Association Studies/methods [MeSH], Genetic Predisposition to Disease [MeSH], Homozygote [MeSH], Consanguinity [MeSH], Brain/diagnostic imaging [MeSH], Neurodevelopmental disorders, Brain/abnormalities [MeSH], Humans [MeSH], Exome Sequencing [MeSH], Article, Pedigree [MeSH], Alleles [MeSH]

العلاقة: https://repository.publisso.de/resource/frl:6443902Test; https://doi.org/10.1038/s10038-021-00947-5Test; https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612930Test/

الإتاحة: https://doi.org/10.1038/s10038-021-00947-5Test
https://repository.publisso.de/resource/frl:6443902Test
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8612930Test/

المؤلفون: Song, Fei, Owczarek-Lipska, Marta, Ahmels, Tim, Book, Marius, Aisenbrey, Sabine, Menghini, Moreno, Barthelmes, Daniel, Schrader, Stefan, Spital, Georg, Neidhardt, John

المصدر: Song, Fei; Owczarek-Lipska, Marta; Ahmels, Tim; Book, Marius; Aisenbrey, Sabine; Menghini, Moreno; Barthelmes, Daniel; Schrader, Stefan; Spital, Georg; Neidhardt, John (2021). High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies. Genes, 12(8):1269.

مصطلحات موضوعية: Ophthalmology Clinic, 610 Medicine & health

وصف الملف: application/pdf

العلاقة: https://www.zora.uzh.ch/id/eprint/209825/1/Song_Genes_2021.pdfTest; info:pmid/34440443; urn:issn:2073-4425

الإتاحة: https://doi.org/10.5167/uzh-20982510.3390/genes12081269Test
https://www.zora.uzh.ch/id/eprint/209825Test/
https://www.zora.uzh.ch/id/eprint/209825/1/Song_Genes_2021.pdfTest

المؤلفون: Jueschke, Christoph, Klopstock, Thomas, Catarino, Claudia B., Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John

المصدر: Jueschke , C , Klopstock , T , Catarino , C B , Owczarek-Lipska , M , Wissinger , B & Neidhardt , J 2021 , ' Autosomal dominant optic atrophy : A novel treatment for OPA1 splice defects using U1 snRNA adaption ' , Molecular therapy - Nucleic acids , vol. 26 , pp. 1186-1197 . https://doi.org/10.1016/j.omtn.2021.10.019Test

مصطلحات موضوعية: GENE THERAPEUTIC APPROACH, SMALL NUCLEAR-RNA, MUTATION, DISEASE, CORRECT, LONG, EXPRESSION, STRATEGY, SPECTRUM, ISOFORMS

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/a2c664db-ee30-4e83-973a-5176c05c533cTest

الإتاحة: https://doi.org/10.1016/j.omtn.2021.10.019Test
https://hdl.handle.net/11370/a2c664db-ee30-4e83-973a-5176c05c533cTest
https://research.rug.nl/en/publications/a2c664db-ee30-4e83-973a-5176c05c533cTest
https://pure.rug.nl/ws/files/202681284/Autosomal_dominant_optic_atrophy_A_novel_treatment_for_OPA1_splice_defects_using_U1_snRNA_adaption.pdfTest

المؤلفون: Jüschke, Christoph, Klopstock, Thomas, Catarino, Claudia B, Owczarek-Lipska, Marta, Wissinger, Bernd, Neidhardt, John

المصدر: Molecular Therapy / Nucleic Acids 26, 1186 - 1197 (2021). doi:10.1016/j.omtn.2021.10.019

مصطلحات موضوعية: info:eu-repo/classification/ddc/610, ADOA, Autosomal Dominant Optic Atrophy, DOA, Dominant Optic Atrophy, ExSpeU1, OPA1, Optic Atrophy Type 1, U1 snRNA, gene therapy, splicing

جغرافية الموضوع: DE

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/pmid:34853716; info:eu-repo/semantics/altIdentifier/issn/2162-2531; https://pub.dzne.de/record/163671Test; https://pub.dzne.de/search?p=id:%22DZNE-2022-00417%22Test

الإتاحة: https://doi.org/10.1016/j.omtn.2021.10.019Test
https://pub.dzne.de/record/163671Test
https://pub.dzne.de/search?p=id:%22DZNE-2022-00417%22Test

المؤلفون: Voessing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte, Jueschke, Christoph, Neidhardt, John

المصدر: Voessing , C , Owczarek-Lipska , M , Nagel-Wolfrum , K , Reiff , C , Jueschke , C & Neidhardt , J 2020 , ' Translational Read-Through Therapy of RPGR Nonsense Mutations ' , International Journal of Molecular Sciences , vol. 21 , no. 22 , 8418 . https://doi.org/10.3390/ijms21228418Test

مصطلحات موضوعية: RPGR, transcriptional therapy, read-through therapy, cilia, cilium, treatment, stop mutation, nonsense mutation, Ataluren, PTC124, LINKED RETINITIS-PIGMENTOSA, SUPPRESSION, PROTEIN, RP2, ISOFORMS, LOCALIZATION, DYSTROPHY, INTERACTS, EFFICACY, DISEASES

وصف الملف: application/pdf

العلاقة: https://research.rug.nl/en/publications/2c653288-e680-408e-aaec-55f19adf9efdTest

الإتاحة: https://doi.org/10.3390/ijms21228418Test
https://hdl.handle.net/11370/2c653288-e680-408e-aaec-55f19adf9efdTest
https://research.rug.nl/en/publications/2c653288-e680-408e-aaec-55f19adf9efdTest
https://pure.rug.nl/ws/files/174212036/ijms_21_08418.pdfTest

المؤلفون: Gläser, Anne, Hammerl, Franziska, Gräler, Markus H., Coldewey, Sina M., Völkner, Christin, Frech, Moritz J., Yang, Fan, Luo, Jiankai, Tönnies, Eric, von Bohlen und Halbach, Oliver, Brandt, Nicola, Heimes, Diana, Neßlauer, Anna-Maria, Korenke, Georg Christoph, Owczarek-Lipska, Marta, Neidhardt, John, Rolfs, Arndt, Wree, Andreas, Witt, Martin, Bräuer, Anja Ursula

وصف الملف: application/pdf

العلاقة: https://epub.ub.uni-greifswald.de/frontdoor/index/index/docId/6485Test; urn:nbn:de:gbv:9-opus-64859; https://nbn-resolving.org/urn:nbn:de:gbv:9-opus-64859Test; https://doi.org/10.3390/ijms21124502Test; https://epub.ub.uni-greifswald.de/files/6485/ijms-21-04502-v2.pdfTest

الإتاحة: https://doi.org/10.3390/ijms21124502Test
https://epub.ub.uni-greifswald.de/frontdoor/index/index/docId/6485Test
https://nbn-resolving.org/urn:nbn:de:gbv:9-opus-64859Test
https://epub.ub.uni-greifswald.de/files/6485/ijms-21-04502-v2.pdfTest

المؤلفون: Vössing, Christine, Owczarek-Lipska, Marta, Nagel-Wolfrum, Kerstin, Reiff, Charlotte M., Jüschke, Christoph, Neidhardt, John

المصدر: International journal of molecular sciences. - 21, 22 (2020) , 8418, ISSN: 1422-0067

وصف الملف: pdf

العلاقة: https://freidok.uni-freiburg.de/data/174866Test

الإتاحة: https://doi.org/10.3390/ijms21228418Test
https://freidok.uni-freiburg.de/data/174866Test
https://nbn-resolving.org/urn:nbn:de:bsz:25-freidok-1748663Test
https://freidok.uni-freiburg.de/dnb/download/174866Test