المؤلفون: Lara Tran, Ioannis Papasavvas, Johannes Fleischhauer, Carl P. Herbort Jr.

المصدر: Case Reports in Ophthalmology, Vol 12, Iss 2, Pp 562-568 (2021)

مصطلحات موضوعية: acute retinal necrosis, coats-like disease, retinitis pigmentosa, Ophthalmology, RE1-994

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/516312; https://doaj.org/toc/1663-2699

URL الوصول: https://doaj.org/article/d9f717a3168a478ca52f3e16cbd5a122

المؤلفون: Amit Tiwari, Johannes Lemke, Janine Altmueller, Holger Thiele, Esther Glaus, Johannes Fleischhauer, Peter Nürnberg, John Neidhardt, Wolfgang Berger

المصدر: PLoS ONE, Vol 11, Iss 7, p e0158692 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4938416?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/835cad091ff045b881f6af13c7b125be

المؤلفون: Moreno Menghini, Barbara Kloeckener-Gruissem, Johannes Fleischhauer, Malaika M Kurz-Levin, Florian K P Sutter, Wolfgang Berger, Daniel Barthelmes

المصدر: PLoS ONE, Vol 7, Iss 7, p e42014 (2012)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC3405003?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/b853e1f50f514489b22be3fb9f55df5d

المؤلفون: Angelika, Schuknecht, Josephine, Wachtl, Johannes, Fleischhauer, Christoph, Kniestedt

المصدر: Klinische Monatsblätter für Augenheilkunde. 239:484-489

مصطلحات موضوعية: Lenses, Intraocular, Ophthalmology, genetic structures, Vitrectomy, Visual Acuity, Humans, sense organs, Lens Subluxation, Macular Edema, eye diseases, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4698f9033732a83705a1b7bda68a5e2
https://doi.org/10.1055/a-1788-3967

المؤلفون: Angelika, Schuknecht, Josephine, Wachtl, Johannes, Fleischhauer, Christoph, Kniestedt

المصدر: Klinische Monatsblätter für Augenheilkunde. 239:424-428

مصطلحات موضوعية: Tonometry, Ocular, Ophthalmology, genetic structures, Humans, Glaucoma, sense organs, Lens Subluxation, Exfoliation Syndrome, Intraocular Pressure, eye diseases, Retrospective Studies

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1dae593d29070881133020492787154
https://doi.org/10.1055/a-1766-7153

المؤلفون: Johannes Fleischhauer, Lara Tran, Ioannis Papasavvas, Carl P. Herbort

المصدر: Case Reports in Ophthalmology
Case Reports in Ophthalmology, Vol 12, Iss 2, Pp 562-568 (2021)

مصطلحات موضوعية: medicine.medical_specialty, Triamcinolone acetonide, Visual acuity, business.industry, medicine.medical_treatment, Context (language use), Vitrectomy, Case Report, RE1-994, Cataract surgery, medicine.disease, eye diseases, Surgery, Posterior segment of eyeball, Retinitis pigmentosa, Ophthalmology, Coats-like disease, Medicine, Acute retinal necrosis, sense organs, medicine.symptom, business, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e1a12292131c2c38c0b786819806c1a
http://europepmc.org/articles/PMC8255695

المؤلفون: Bmc Ophthalmology, Edema Bevacizumab, Mathias Abegg, Ute Wolf-schnurrbusch, Daniel Barthelmes Sebastian Wolf, Johannes Fleischhauer

المساهمون: The Pennsylvania State University CiteSeerX Archives

المصدر: ftp://ftp.ncbi.nlm.nih.gov/pub/pmc/16/30/BMC_Ophthalmol_2008_Sep_29_8_18.tar.gz

وصف الملف: application/zip

Relation: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.278.1802

الاتاحة: http://citeseerx.ist.psu.edu/viewdoc/summary?doi=10.1.1.278.1802

المؤلفون: Daniel Barthelmes, Sandrine Zweifel, Johannes Fleischhauer, Christoph Amstutz

المساهمون: University of Zurich, Amstutz, C A

المصدر: Klinische Monatsblätter für Augenheilkunde. 232:533-537

مصطلحات موضوعية: 10018 Ophthalmology Clinic, Gynecology, medicine.medical_specialty, biology, business.industry, VEGF receptors, 610 Medicine & health, 2731 Ophthalmology, Ophthalmology, Ophthalmology clinic, Altersabhangige makuladegeneration, medicine, biology.protein, Ranibizumab, business, medicine.drug

وصف الملف: Amstutz_1.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a1e12cc8a6e819c45b8725736fc850
https://doi.org/10.1055/s-0035-1545673

المؤلفون: Johannes Fleischhauer, Gérald Keusch, M. Dominik Fischer, Mathias Abegg

مصطلحات موضوعية: Intraocular pressure, medicine.medical_specialty, genetic structures, Aqueous humour, business.industry, Unknown aetiology, Aqueous humor, medicine.disease, eye diseases, Sensory Systems, Surgery, Cellular and Molecular Neuroscience, Ophthalmology, Central retinal vein occlusion, medicine, Outflow, Letters, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::927f7c24f7b098b59c4102768226c043
https://doi.org/10.1136/bjo.2006.110072

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

المساهمون: University of Zurich, Berger, Wolfgang

المصدر: Scientific Reports
Tiwari, Amit; Bahr, Angela; Bähr, Luzy; Fleischhauer, Johannes; Zinkernagel, Martin; Winkler, Niklas; Barthelmes, Daniel; Berger, Lieselotte Erika; 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), p. 28755. Nature Publishing Group 10.1038/srep28755 <http://dx.doi.org/10.1038/srep28755>
Scientific Reports, 6
Sci Rep

مصطلحات موضوعية: 10018 Ophthalmology Clinic, Male, 0301 basic medicine, Virus genetics, Mutation, Medical genetics, Genetic counseling, Population, 610 Medicine & health, Biology, Bioinformatics, medicine.disease_cause, Article, 11124 Institute of Medical Molecular Genetics, 03 medical and health sciences, 0302 clinical medicine, Retinal Dystrophies, Exome Sequencing, medicine, Humans, Eye Proteins, education, Exome sequencing, Genetics, 1000 Multidisciplinary, education.field_of_study, Multidisciplinary, Genetic heterogeneity, High-Throughput Nucleotide Sequencing, Membrane Transport Proteins, Exon skipping, 3. Good health, 030104 developmental biology, 10076 Center for Integrative Human Physiology, 030221 ophthalmology & optometry, 570 Life sciences, biology, Receptors, Virus, Female, Switzerland

وصف الملف: Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.pdf - application/pdf; application/pdf; application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfa477ba673554d82c91fe6be6b546f8
https://doi.org/10.1038/srep28755

المؤلفون: Johannes Fleischhauer, R. Eberhard, Christoph Kniestedt

المساهمون: University of Zurich, Kniestedt, C

مصطلحات موضوعية: 10018 Ophthalmology Clinic, medicine.medical_specialty, Intraocular pressure, genetic structures, medicine.medical_treatment, Prosthesis Implantation, 610 Medicine & health, urologic and male genital diseases, Prosthesis, 03 medical and health sciences, 0302 clinical medicine, medicine, Iris (anatomy), urogenital system, business.industry, Partial aniridia, Cataract surgery, medicine.disease, 2731 Ophthalmology, eye diseases, Surgery, Ophthalmology, medicine.anatomical_structure, Aniridia, Iridectomy, 030221 ophthalmology & optometry, sense organs, business, 030217 neurology & neurosurgery

وصف الملف: Kniestedt_1.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d07e17f7160e93f573afb646ed787987
https://www.zora.uzh.ch/id/eprint/130566/

المؤلفون: Dorothee Leifert, Ursula Forster, Susanne Kohl, Ulrike Hüffmeier, Veselina Moskova-Doumanova, Birgit Lorenz, Bart P. Leroy, José-Alain Sahel, Isabelle Audo, Mariana Wittmer, Elfride De Baere, Francis L. Munier, Frans P.M. Cremers, Johannes Fleischhauer, Christina Zeitz, Charlotte M. Poloschek, Maria M. van Genderen, Daniel F. Schorderet, Alex V. Levin, Christoph Friedburg, Stephan Labs, Saddek Mohand-Said, Bernd Wissinger, Eberhart Zrenner, Christian P. Hamel, Janne Üksti, Hester Y. Kroes, Wlolfgang Berger

المساهمون: University of Zurich, Zeitz, C

المصدر: Investigative Ophthalmology and Visual Science, 50, 5919-26
Investigative Ophthalmology and Visual Science, 50, 12, pp. 5919-26

مصطلحات موضوعية: Male, Genetics and epigenetic pathways of disease [NCMLS 6], Microarray, 10039 Institute of Medical Genetics, DNA Mutational Analysis, 2804 Cellular and Molecular Neuroscience, Expression, Arrayed Primer Extension, Receptors, Metabotropic Glutamate, Dystrophy, Polymerase Chain Reaction, Families, 11124 Institute of Medical Molecular Genetics, Night Blindness, Genotype, Child, Oligonucleotide Array Sequence Analysis, Genetics, Congenital stationary night blindness, Inheritance (genetic algorithm), Electroretinogram, 2731 Ophthalmology, Heterotrimeric GTP-Binding Proteins, Pedigree, Mutation (genetic algorithm), Female, Proteoglycans, Erg, Rhodopsin, Adolescent, Calcium Channels, L-Type, 610 Medicine & health, Biology, Stationary Night Blindness, 2809 Sensory Systems, Retinal Diseases, Cacna1F Mutations, Humans, Transducin, Eye Proteins, Mutation Detection, Genotyping, Cyclic Nucleotide Phosphodiesterases, Type 6, Genetic heterogeneity, Gene Expression Profiling, Calcium-Binding Proteins, Complete Form, Mutation, 570 Life sciences, biology, Rich

وصف الملف: Genotyping_Microarray_for_CSNB-Associated_Genes.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::876e20e0427b28e14784fbbd81d6543b
https://hdl.handle.net/2066/80582

المؤلفون: Wolfgang Berger, Amit Tiwari, Johannes Lemke, Peter Nürnberg, Esther Glaus, Johannes Fleischhauer, John Neidhardt, Holger Thiele, Janine Altmueller

المساهمون: University of Zurich, Tiwari, Amit

المصدر: PLoS One
PLoS ONE
PLoS ONE, 11 (7)
PLoS ONE, Vol 11, Iss 7, p e0158692 (2016)

مصطلحات موضوعية: 0301 basic medicine, Male, Molecular biology, DNA Mutational Analysis, lcsh:Medicine, 11124 Institute of Medical Molecular Genetics, 0302 clinical medicine, Sequencing techniques, Gene duplication, Dominant Traits, Exome, DNA sequencing, lcsh:Science, Frameshift Mutation, Exome sequencing, Cells, Cultured, Genetics, Sanger sequencing, Multidisciplinary, Nonsense Mutation, Cadherins, 3. Good health, Pedigree, 10076 Center for Integrative Human Physiology, symbols, Female, Sequence Analysis, Genetic Dominance, Research Article, Nonsense mutation, 610 Medicine & health, 1100 General Agricultural and Biological Sciences, Biology, Frameshift mutation, 03 medical and health sciences, symbols.namesake, 1300 General Biochemistry, Genetics and Molecular Biology, Retinal Dystrophies, Autosomal Dominant Traits, parasitic diseases, Cell Adhesion, Humans, 1000 Multidisciplinary, Genetic heterogeneity, lcsh:R, Dideoxy DNA sequencing, Biology and Life Sciences, Sequence Analysis, DNA, Cell Biology, Research and analysis methods, 030104 developmental biology, Molecular biology techniques, Mutation, Genetics of Disease, 030221 ophthalmology & optometry, Mendelian inheritance, 570 Life sciences, biology, lcsh:Q, Sequence Alignment

وصف الملف: Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome.PDF - application/pdf; application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::46b3a843622004db59b20ab6444e45a2
https://www.zora.uzh.ch/id/eprint/125805/

المؤلفون: Daniel Barthelmes, Johannes Fleischhauer, Florian K. P. Sutter, Horst Helbig, P Beeler

المصدر: Klinische Monatsblätter für Augenheilkunde. 224:265-268

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, genetic structures, Contact Lenses, Rigid contact lens, Sensitivity and Specificity, Patient satisfaction, Optics, Age groups, Ophthalmology, Electroretinography, medicine, Humans, Electrical performance, Scotopic vision, Electrodes, Aged, Patient comfort, Aged, 80 and over, Miniaturization, business.industry, Reproducibility of Results, Equipment Design, Middle Aged, Equipment Failure Analysis, Patient Satisfaction, Electrode, Female, sense organs, business, Erg

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67e048b455be860687eae32c388d5a7c
https://doi.org/10.1055/s-2007-962856

المؤلفون: Florian K. P. Sutter, Johannes Fleischhauer, Horst Helbig, Daniel Barthelmes, Moreno Menghini, M. M. Boesch, M. M. Kurz-Levin

المصدر: Klinische Monatsblätter für Augenheilkunde. 224:288-291

مصطلحات موضوعية: medicine.medical_specialty, genetic structures, business.industry, medicine.medical_treatment, Case-control study, Macular degeneration, Cataract surgery, medicine.disease, Exudative age-related macular degeneration, eye diseases, Ophthalmology, Epidemiology, medicine, Maculopathy, sense organs, Risk factor, business, Bilateral pseudophakia

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::331ae4ce4684b9a3ee12f316db5e10b9
https://doi.org/10.1055/s-2007-962896

المؤلفون: Horst Helbig, Johannes Fleischhauer, Martina M. Bosch, Florian K. P. Sutter, A C Marti, M. M. Kurz-Levin, Daniel Barthelmes

المساهمون: University of Zurich, Sutter, F K P

المصدر: Der Ophthalmologe. 104:143-148

مصطلحات موضوعية: medicine.medical_specialty, Visual acuity, genetic structures, business.industry, Standard treatment, medicine.medical_treatment, Significant difference, 610 Medicine & health, Retrospective cohort study, Photodynamic therapy, 2731 Ophthalmology, 142-005 142-005, Verteporfin, eye diseases, Sight, Low vision, Ophthalmology, medicine, Optometry, sense organs, medicine.symptom, business, medicine.drug

وصف الملف: ZORA_NL_156482.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bc9a262565e54f08cc0e682358cbd861
https://doi.org/10.1007/s00347-006-1447-z

المؤلفون: Andrew R. Webster, Robert K. Koenekoop, Zubin Saihan, P.M. Kelley, Elfride De Baere, Arjan P.M. de Brouwer, Maigi Külm, Elene Haralambous, Eeva-Marja Sankila, Erwin van Wijk, Johannes Fleischhauer, Sandro Banfi, Michael D. Weston, William J. Kimberling, Dominique Weil, Gareth J. McKay, Bart P. Leroy, José M. Millán, Lies H. Hoefsloot, Francesca Simonelli, Cor W. R. J. Cremers, Tarja Joensuu, Thomas Rosenberg, Giuliana Silvestri, Heleen te Brinke, Bernd Wissinger, Maria Bitner-Glindzicz, Hannie Kremer, Wolfgang Berger, Frans P.M. Cremers

المساهمون: Cremers, Fp, Kimberling, Wj, Kulm, M, DE BROUWER, A, VAN WIJK, E, TE BRINKE, H, Cremers, Cw, Hoefsloot, Lh, Banfi, Sandro, Simonelli, Francesca, Fleischhauer, Jc, Berger, W, Kelley, Pm, Haralambous, E, BITNER GLINDZICZ, M, Webster, Ar, Saihan, Z, DE BAERE, E, Leroy, Bp, Silvestri, G, Mckay, G, Koenekoop, Rk, Millan, Jm, Rosenberg, T, Joensuu, T, Sankila, Em, Weil, D, Weston, Md, Wissinger, B, Kremer, H.

المصدر: JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Journal of Medical Genetics, 44, 153-60
Journal of Medical Genetics, 44, 2, pp. 153-60

مصطلحات موضوعية: RECESSIVE RETINITIS-PIGMENTOSA, Microarray, Genetics and epigenetic pathways of disease [NCMLS 6], Genotype, Hearing loss, Usher syndrome, LEBER CONGENITAL AMAUROSIS, Biology, USH2A GENE, EAR SENSORY CELLS, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, SYNDROME TYPE 1F, MUTATION DETECTION, SYNDROME-TYPE-II, Retinitis pigmentosa, Genetics, medicine, Medicine and Health Sciences, Perception and Action [DCN 1], otorhinolaryngologic diseases, Neurosensory disorders [UMCN 3.3], Humans, Genotyping, Genetics (clinical), 030304 developmental biology, DNA Primers, Oligonucleotide Array Sequence Analysis, 0303 health sciences, Genetic heterogeneity, HEARING-LOSS, 030305 genetics & heredity, Genetic Variation, DNA, medicine.disease, ARRAYED PRIMER EXTENSION, eye diseases, 3. Good health, MYOSIN VIIA GENE, Europe, Genetic defects of metabolism [UMCN 5.1], sense organs, medicine.symptom, Functional Neurogenomics [DCN 2], Usher Syndromes, PCDH15, Letter to JMG

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1907102e04096faab331e49feaf22c1
https://hdl.handle.net/2066/52397

المؤلفون: W A Njoh, Günter Niemeyer, Johannes Fleischhauer

المصدر: Klinische Monatsblätter für Augenheilkunde. 222:186-190

مصطلحات موضوعية: Retinal degeneration, medicine.medical_specialty, genetic structures, engineering.material, Ophthalmoscopy, Ophthalmology, Retinitis pigmentosa, Electroretinography, medicine, Humans, Retrospective Studies, medicine.diagnostic_test, business.industry, Retinal Degeneration, Retrospective cohort study, Syndrome, medicine.disease, eye diseases, Phenotype, Batten, engineering, sense organs, Differential diagnosis, business, Erg, Retinitis Pigmentosa

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::df247e8c87af5d168158b519cc2f9a2c
https://doi.org/10.1055/s-2005-857973

المؤلفون: Johannes Fleischhauer, Ivan O. Haefliger, Josef Flammer

المصدر: Eye. 14:464-472

مصطلحات موضوعية: Retinal Ganglion Cells, Pathology, medicine.medical_specialty, genetic structures, Excitotoxicity, Glaucoma, Apoptosis, medicine.disease_cause, Bioinformatics, Retinal ganglion, Neuroprotection, Optic Nerve Diseases, medicine, Humans, Amyotrophic lateral sclerosis, Retina, business.industry, Neurodegenerative Diseases, medicine.disease, eye diseases, Clinical trial, Ophthalmology, Neuroprotective Agents, medicine.anatomical_structure, Optic nerve, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::42afdff16e720763ec9f8c08013efe08
https://doi.org/10.1038/eye.2000.132

المؤلفون: Christian W. Hess, Claudio L. Bassetti, Johannes Fleischhauer, Daniel S. Mojon, David Goldblum, Fritz Koerner, Johannes Mathis

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Intraocular pressure, Visual acuity, genetic structures, Polysomnography, Population, Visual Acuity, Glaucoma, Sleep Apnea Syndromes, Risk Factors, Ophthalmology, Respiratory disturbance index, Prevalence, medicine, Humans, education, Intraocular Pressure, education.field_of_study, medicine.diagnostic_test, business.industry, Sleep apnea, Middle Aged, medicine.disease, eye diseases, Surgery, Cross-Sectional Studies, medicine.anatomical_structure, Visual Field Tests, Female, sense organs, Visual Fields, medicine.symptom, business, Glaucoma, Open-Angle, Optic disc

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8f326d7a39b032c4b7f65423f9175bf
https://doi.org/10.1016/s0161-6420(99)00525-4