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: Kivrak Pfiffner, Fatma, Koller, Samuel, Ménétrey, Anika, Graf, Urs, Bähr, Luzy, Maspoli, Alessandro, Hackenberg, Annette, Kottke, Raimund, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Kivrak Pfiffner, Fatma; Koller, Samuel; Ménétrey, Anika; Graf, Urs; Bähr, Luzy; Maspoli, Alessandro; Hackenberg, Annette; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2022). Homozygosity for a Novel DOCK7 Variant Due to Segmental Uniparental Isodisomy of Chromosome 1 Associated with Early Infantile Epileptic Encephalopathy (EIEE) and Cortical Visual Impairment. International Journal of Molecular Sciences, 23(13):7382.

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

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/219546/1/ijms_23_07382.pdf; info:pmid/35806387; urn:issn:1422-0067

الاتاحة: https://www.zora.uzh.ch/id/eprint/219546/
https://www.zora.uzh.ch/id/eprint/219546/1/ijms_23_07382.pdf
https://doi.org/10.3390/ijms23137382

المؤلفون: Maggi, Jordi, Koller, Samuel, Bähr, Luzy, Feil, Silke, Kivrak-Pfiffner, Fatma, Hanson, James V M, Maspoli, Alessandro, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Maggi, Jordi; Koller, Samuel; Bähr, Luzy; Feil, Silke; Kivrak-Pfiffner, Fatma; Hanson, James V M; Maspoli, Alessandro; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. International Journal of Molecular Sciences, 22(4):1508.

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

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/208201/1/ijms-22-01508-v2.pdf; info:pmid/33546218; urn:issn:1422-0067

الاتاحة: https://www.zora.uzh.ch/id/eprint/208201/
https://doi.org/10.3390/ijms22041508

المؤلفون: Haug, Patricia, Koller, Samuel, Maggi, Jordi, Lang, Elena, Feil, Silke, Wlodarczyk, Agnès, Bähr, Luzy, Steindl, Katharina, Rohrbach, Marianne, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Haug, Patricia; Koller, Samuel; Maggi, Jordi; Lang, Elena; Feil, Silke; Wlodarczyk, Agnès; Bähr, Luzy; Steindl, Katharina; Rohrbach, Marianne; Gerth-Kahlert, Christina; Berger, Wolfgang (2021). Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes. Genes, 12(1):E65.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Institute of Medical Molecular Genetics, Medical Clinic, 530 Physics

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/197046/1/genes-12-00065.pdf; info:pmid/33418956; urn:issn:2073-4425

الاتاحة: https://www.zora.uzh.ch/id/eprint/197046/
https://doi.org/10.3390/genes12010065

المؤلفون: Atac, David, Koller, Samuel, Hanson, James V M, Feil, Silke, Tiwari, Amit, Bahr, Angela, Baehr, Luzy, Magyar, István, Kottke, Raimund, Gerth-Kahlert, Christina, Berger, Wolfgang

المصدر: Atac, David; Koller, Samuel; Hanson, James V M; Feil, Silke; Tiwari, Amit; Bahr, Angela; Baehr, Luzy; Magyar, István; Kottke, Raimund; Gerth-Kahlert, Christina; Berger, Wolfgang (2020). Atonal homolog 7 (ATOH7) loss-of-function mutations in predominant bilateral optic nerve hypoplasia. Human Molecular Genetics, 29(1):132-148.

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

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/177720/1/ddz268.pdf; info:pmid/31696227; urn:issn:0964-6906

الاتاحة: https://www.zora.uzh.ch/id/eprint/177720/
https://www.zora.uzh.ch/id/eprint/177720/1/ddz268.pdf
https://doi.org/10.1093/hmg/ddz268

المؤلفون: Lang, Elena, Koller, Samuel, Bähr, Luzy, Töteberg-Harms, Marc, Atac, David, Roulez, Françoise, Bahr, Angela, Steindl, Katharina, Feil, Silke, Berger, Wolfgang, Gerth-Kahlert, Christina

المصدر: Lang, Elena; Koller, Samuel; Bähr, Luzy; Töteberg-Harms, Marc; Atac, David; Roulez, Françoise; Bahr, Angela; Steindl, Katharina; Feil, Silke; Berger, Wolfgang; Gerth-Kahlert, Christina (2020). Exome Sequencing in a Swiss Childhood Glaucoma Cohort Reveals CYP1B1 and FOXC1 Variants as Most Frequent Causes. Translational vision science & technology, 9(7):47.

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

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/192487/1/i2164-2591-636-1-2319.pdf; info:pmid/32832252; urn:issn:2164-2591

الاتاحة: https://www.zora.uzh.ch/id/eprint/192487/
https://doi.org/10.1167/tvst.9.7.47

المؤلفون: Koller, Samuel; https://orcid.org/0000-0003-0965-0539, Beltraminelli, Tim; https://orcid.org/0000-0002-1183-8736, Maggi, Jordi; https://orcid.org/0000-0002-9906-8739, Wlodarczyk, Agnès, Feil, Silke, Baehr, Luzy, Gerth-Kahlert, Christina; https://orcid.org/0000-0001-6298-615X, Menghini, Moreno, Berger, Wolfgang; https://orcid.org/0000-0002-0370-3815

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 الفهرس: Ophthalmology Clinic, Institute of Medical Molecular Genetics, 570 Life sciences; biology, 610 Medicine & health, Genetics (clinical), Genetics, Journal Article, PeerReviewed, info:eu-repo/semantics/article, info:eu-repo/semantics/publishedVersion

URL: https://www.zora.uzh.ch/id/eprint/233089/
https://www.zora.uzh.ch/id/eprint/233089
10.3390/genes14040934
info:eu-repo/grantAgreement/EC/FP7/213717
info:eu-repo/grantAgreement/unknown/Bayer A.G. Switzerland

المؤلفون: Gerth-Kahlert, Christina, Koller, Samuel, Hanson, James V M, Baehr, Luzy, Tiwari, Amit, Kivrak-Pfiffner, Fatma, Bahr, Angela, Berger, Wolfgang

المصدر: Gerth-Kahlert, Christina; Koller, Samuel; Hanson, James V M; Baehr, Luzy; Tiwari, Amit; Kivrak-Pfiffner, Fatma; Bahr, Angela; Berger, Wolfgang (2019). Genotype-Phenotype Analysis of a Novel Recessive and a Recurrent Dominant SNRNP200 Variant Causing Retinitis Pigmentosa. Investigative Ophthalmology & Visual Science [IOVS], 60(8):2822-2835.

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

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/177721/1/i1552-5783-60-8-2822.pdf; info:pmid/31260034; urn:issn:0146-0404

الاتاحة: https://www.zora.uzh.ch/id/eprint/177721/

المؤلفون: Gerth-Kahlert, Christina, Tiwari, Amit, Hanson, James V M, Batmanabane, Vaishnavi, Traboulsi, Elias, Pennesi, Mark E, Al-Qahtani, Abdullah A, Lam, Byron L, Heckenlively, John, Zweifel, Sandrine A, Vincent, Ajoy, Fierz, Fabienne, Barthelmes, Daniel, Branham, Kari, Khan, Naheed, Bahr, Angela, Baehr, Luzy, Magyar, István, Koller, Samuel, Azzarello-Burri, Silvia, Niedrist, Dunja, Heon, Elise, Berger, Wolfgang

المصدر: Gerth-Kahlert, Christina; Tiwari, Amit; Hanson, James V M; Batmanabane, Vaishnavi; Traboulsi, Elias; Pennesi, Mark E; Al-Qahtani, Abdullah A; Lam, Byron L; Heckenlively, John; Zweifel, Sandrine A; Vincent, Ajoy; Fierz, Fabienne; Barthelmes, Daniel; Branham, Kari; Khan, Naheed; Bahr, Angela; Baehr, Luzy; Magyar, István; Koller, Samuel; Azzarello-Burri, Silvia; Niedrist, Dunja; Heon, Elise; Berger, Wolfgang (2017). C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Investigative Ophthalmology & Visual Science [IOVS], 58(10):3840-3850.

مصطلحات موضوعية: Ophthalmology Clinic, Institute of Medical Genetics, Neuroscience Center Zurich, Zurich Center for Integrative Human Physiology (ZIHP), Institute of Medical Molecular Genetics, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/139291/1/Gerth-Kahlert_1.pdf; info:pmid/28763557; urn:issn:0146-0404

الاتاحة: https://www.zora.uzh.ch/id/eprint/139291/

المؤلفون: Tiwari, Amit, Bahr, Angela, Bähr, Luzy, Fleischhauer, Johannes, Zinkernagel, Martin S, Winkler, Niklas, Barthelmes, Daniel, Berger, Lieselotte, Gerth-Kahlert, Christina, Neidhardt, John, Berger, Wolfgang

المصدر: Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin S; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte; Gerth-Kahlert, Christina; Neidhardt, John; Berger, Wolfgang (2016). Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies. Scientific Reports, 6:28755.

مصطلحات موضوعية: Ophthalmology Clinic, Zurich Center for Integrative Human Physiology (ZIHP), Institute of Medical Molecular Genetics, 570 Life sciences, biology, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/125809/1/Next%20generation%20sequencing%20based%20identification%20of%20disease-associated%20mutations%20in%20Swiss%20patients%20with%20retinal%20dystrophies.pdf; info:pmid/27353947; urn:issn:2045-2322

الاتاحة: https://www.zora.uzh.ch/id/eprint/125809/
https://doi.org/10.1038/srep28755

المؤلفون: Vincent, Ajoy, Ng, Judith, Gerth-Kahlert, Christina, Tavares, Erika, Maynes, Jason T, Wright, Thomas, Tiwari, Amit, Tumber, Anupreet, Li, Shuning, Hanson, James V M, Bahr, Angela, MacDonald, Heather, Bähr, Luzy, Westall, Carol, Berger, Wolfgang, Cremers, Frans P M, den Hollander, Anneke I, Héon, Elise

المصدر: Vincent, Ajoy; Ng, Judith; Gerth-Kahlert, Christina; Tavares, Erika; Maynes, Jason T; Wright, Thomas; Tiwari, Amit; Tumber, Anupreet; Li, Shuning; Hanson, James V M; Bahr, Angela; MacDonald, Heather; Bähr, Luzy; Westall, Carol; Berger, Wolfgang; Cremers, Frans P M; den Hollander, Anneke I; Héon, Elise (2016). Biallelic mutations in CRB1 underlie autosomal recessive familial foveal retinoschisis. Investigative Ophthalmology & Visual Science [IOVS], 57:2637-2646.

مصطلحات موضوعية: Ophthalmology Clinic, Zurich Center for Integrative Human Physiology (ZIHP), Institute of Medical Molecular Genetics, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/124301/1/Vincent_1.pdf; info:pmid/27258436; urn:issn:0146-0404

الاتاحة: https://www.zora.uzh.ch/id/eprint/124301/
https://www.zora.uzh.ch/id/eprint/124301/1/Vincent_1.pdf

المؤلفون: Benson, Matthew D, Plemel, David J A, Freund, Paul R, Lewis, James R, Sass, Jörn Oliver, Bähr, Luzy, Gemperle-Britschgi, Corinne, Ferreira, Patrick, MacDonald, Ian M

الاتاحة: https://dx.doi.org/10.5167/uzh-197037
https://www.zora.uzh.ch/id/eprint/197037

المؤلفون: Lang, Elena, Koller, Samuel, Atac, David, Pfäffli, Oliver Andreas, Hanson, James V M, Feil, Silke, Bähr, Luzy, Bahr, Angela, Kottke, Raimund, Joset, Pascal, Fasler, Katrin, Barthelmes, Daniel, Steindl, Katharina, Konrad, Daniel, Wille, David-Alexander, Berger, Wolfgang, Gerth-Kahlert, Christina

المصدر: Lang, Elena; Koller, Samuel; Atac, David; Pfäffli, Oliver Andreas; Hanson, James V M; Feil, Silke; Bähr, Luzy; Bahr, Angela; Kottke, Raimund; Joset, Pascal; Fasler, Katrin; Barthelmes, Daniel; Steindl, Katharina; Konrad, Daniel; Wille, David-Alexander; Berger, Wolfgang; Gerth-Kahlert, Christina (2021). Genotype-phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica, 99(4):e594-e607.

مصطلحات موضوعية: Ophthalmology Clinic, Medical Clinic, Institute of Medical Genetics, Institute of Medical Molecular Genetics, 610 Medicine & health

وصف الملف: application/pdf

Relation: https://www.zora.uzh.ch/id/eprint/191051/1/aos.14615-1.pdf; info:pmid/32996714; urn:issn:1755-375X

الاتاحة: https://www.zora.uzh.ch/id/eprint/191051/
https://doi.org/10.1111/aos.14615

المؤلفون: Benson, Matthew D., Plemel, David J. A., Freund, Paul R., Lewis, James R., Sass, Jörn Oliver, Bähr, Luzy, Gemperle-Britschgi, Corinne, Ferreira, Patrick, MacDonald, Ian M.

المصدر: Ophthalmic Genetics ; ISSN 1381-6810

مصطلحات موضوعية: ddc:576

Relation: https://pub.h-brs.de/frontdoor/index/index/docId/5063

الاتاحة: https://pub.h-brs.de/frontdoor/index/index/docId/5063

المؤلفون: Rechsteiner, Delia, Issler, Lydia, Koller, Samuel, Lang, Elena, Bähr, Luzy, Feil, Silke, Rüegger, Christoph M., Kottke, Raimund, Toelle, Sandra P., Zweifel, Noëmi, Steindl, Katharina, Joset, Pascal, Zweier, Markus, Suter, Aude-Annick, Gogoll, Laura, Haas, Cordula, Berger, Wolfgang, Gerth-Kahlert, Christina

المصدر: JAMA Ophthalmology ; volume 139, issue 7, page 691 ; ISSN 2168-6165

الاتاحة: http://dx.doi.org/10.1001/jamaophthalmol.2021.0385
https://jamanetwork.com/journals/jamaophthalmology/articlepdf/2780307/jamaophthalmology_rechsteiner_2021_oi_210012_1626875377.96402.pdf

المؤلفون: Gerth-Kahlert, Christina, Tiwari, Amit, Bahr, Angela, Bähr, Luzy, Magyar, István, Berger, Wolfgang

المصدر: Gerth-Kahlert, Christina; Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Magyar, István; Berger, Wolfgang (2016). Complex optic nerve and macular hypoplasia in two siblings with compound heterozygous mutations in the ATOH7 gene. Journal of AAPOS, 20(4):e32.

مصطلحات موضوعية: Institute of Medical Genetics, 570 Life sciences, biology, 610 Medicine & health, Ophthalmology, Pediatrics, Perinatology and Child Health

Relation: https://www.zora.uzh.ch/211316; urn:issn:1091-8531

الاتاحة: https://www.zora.uzh.ch/id/eprint/211316/
https://www.zora.uzh.ch/211316
https://doi.org/10.1016/j.jaapos.2016.07.122

المؤلفون: Reuter, Miriam S, Sass, Jörn Oliver, Leis, Thomas, Köhler, Julia, Mayr, Johannes A, Feichtinger, René G, Rauh, Manfred, Schanze, Ina, Bähr, Luzy, Trollmann, Regina, Uebe, Steffen, Ekici, Arif B, Reis, André

الاتاحة: https://dx.doi.org/10.5167/uzh-99004
https://www.zora.uzh.ch/id/eprint/99004

المؤلفون: Reuter, Miriam S., Sass, Jörn Oliver, Leis, Thomas, Köhler, Julia, Mayr, Johannes A., Feichtinger, René G., Rauh, Manfred, Schanze, Ina, Bähr, Luzy, Trollmann, Regina, Uebe, Steffen, Ekici, Arif B., Reis, André

المصدر: American Journal of Medical Genetics, Part A ; ISSN 1552-4825

مصطلحات موضوعية: ddc:610

Relation: https://pub.h-brs.de/frontdoor/index/index/docId/3981

الاتاحة: https://pub.h-brs.de/frontdoor/index/index/docId/3981