المؤلفون: R Asadollahi, I Delvendahl, R Muff, G Tan, D G Rodríguez, S Turan, M Russo, B Oneda, P Joset, P Boonsawat, R Masood, M Mocera, I Ivanovski, A Baumer, R Bachmann-Gagescu, R Schlapbach, H Rehrauer, K Steindl, A Begemann, A Reis, J Winkler, B Winner, M Müller, A Rauch

المصدر: Human Molecular Genetics, 32 (13)

مصطلحات موضوعية: Genetics, General Medicine, Molecular Biology, Genetics (clinical)

وصف الملف: application/application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d4d937da1cb5308516c48a8cb42716
https://doi.org/10.1093/hmg/ddad048

المؤلفون: M. Gabriele, A. T. Vulto van Silfhout, P. Germain, A. Vitriolo, R. Kumar, E. Douglas, E. Haan, K. Kosaki, T. Takenouchi, A. Rauch, K. Steindl, E. Frengen, D. Misceo, C. R. J. Pedurupillay, P. Stromme, J. A. Rosenfeld, Y. Shao, W. J. Craigen, C. P. Schaaf, D. Rodriguez Buritica, L. Farach, J. Friedman, P. Thulin, S. D. Mclean, K. M. Nugent, J. Morton, J. Nicholl, J. Andrieux, A. Stray Pedersen, P. Chambon, S. Patrier, S. A. Lynch, S. Kjaergaard, P. M. Tørring, C. Brasch Andersen, A. Ronan, A. van Haeringen, P. J. Anderson, Z. Powis, H. G. Brunner, R. Pfundt, J. H. M. Schuurs Hoeijmakers, B. W. M. van Bon, S. Lelieveld, C. Gilissen, W. M. Nillesen, L. E. L. M. Vissers, J. Gecz, D. A. Koolen, G. Testa, B. B. A. de Vries

المساهمون: M. Gabriele, A.T. Vulto van Silfhout, P. Germain, A. Vitriolo, R. Kumar, E. Dougla, E. Haan, K. Kosaki, T. Takenouchi, A. Rauch, K. Steindl, E. Frengen, D. Misceo, C.R.J. Pedurupillay, P. Stromme, J.A. Rosenfeld, Y. Shao, W.J. Craigen, C.P. Schaaf, D. Rodriguez Buritica, L. Farach, J. Friedman, P. Thulin, S.D. Mclean, K.M. Nugent, J. Morton, J. Nicholl, J. Andrieux, A. Stray Pedersen, P. Chambon, S. Patrier, S.A. Lynch, S. Kjaergaard, P.M. Tørring, C. Brasch Andersen, A. Ronan, A. van Haeringen, P.J. Anderson, Z. Powi, H.G. Brunner, R. Pfundt, J.H.M. Schuurs Hoeijmaker, B.W.M. van Bon, S. Lelieveld, C. Gilissen, W.M. Nillesen, L.E.L.M. Visser, J. Gecz, D.A. Koolen, G. Testa, B.B.A. de Vries

مصطلحات موضوعية: 17Q21.31 microdeletion syndrome, potential function, mental-retardation, demethylase JMJD3, gene-expression, adenovirus E1A, liquid water, KANSL1 cause, stem-cell, mutations, Settore BIO/11 - Biologia Molecolare, Settore BIO/10 - Biochimica, Settore BIO/12 - Biochimica Clinica e Biologia Molecolare Clinica, Settore BIO/13 - Biologia Applicata, Settore MED/04 - Patologia Generale, Settore MED/25 - Psichiatria, Settore MED/38 - Pediatria Generale e Specialistica, Settore MED/39 - Neuropsichiatria Infantile, Settore MED/26 - Neurologia, Settore BIO/18 - Genetica, Settore MED/03 - Genetica Medica

Relation: info:eu-repo/semantics/altIdentifier/pmid/28575647; info:eu-repo/semantics/altIdentifier/wos/WOS:000402700600007; volume:100; issue:6; firstpage:907; lastpage:925; numberofpages:19; journal:AMERICAN JOURNAL OF HUMAN GENETICS; http://hdl.handle.net/2434/503596; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85020105976

الاتاحة: http://hdl.handle.net/2434/503596
https://doi.org/10.1016/j.ajhg.2017.05.006

المؤلفون: Sophie Frantal, Walter Krugluger, T. Aggermann, Christian Oberkanins, Susanne Binder, K. Steindl, Helene Pühringer, Paulina Haas

المصدر: Acta Ophthalmologica. 89:335-338

مصطلحات موضوعية: Genetic Markers, Male, Apolipoprotein E, medicine.medical_specialty, Genotype, Apolipoprotein B, Apolipoprotein E4, Population, Single-nucleotide polymorphism, Polymorphism, Single Nucleotide, White People, Macular Degeneration, chemistry.chemical_compound, Risk Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Single-Blind Method, Prospective Studies, education, Aged, Aged, 80 and over, Genetics, education.field_of_study, biology, Haplotype, Fibrinogen, General Medicine, Middle Aged, Factor XIII, Ophthalmology, Endocrinology, chemistry, Cardiovascular Diseases, Case-Control Studies, Plasminogen activator inhibitor-1, Methylenetetrahydrofolate reductase, biology.protein, Female, medicine.drug

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0744a17687172bca0c25336d136069b5
https://doi.org/10.1111/j.1755-3768.2009.01697.x

المؤلفون: Paulina Haas, Gregory S. Hageman, W. Krugluger, Tina Aggermann, Susanne Binder, Katharina E. Schmid-Kubista, K. Steindl

المصدر: Eye. 23:2228-2232

مصطلحات موضوعية: Male, Genotype, genetic structures, Enzyme-Linked Immunosorbent Assay, urologic and male genital diseases, medicine.disease_cause, Article, Macular Degeneration, medicine, Humans, Genetic Predisposition to Disease, Chlamydiaceae, Allele, Chlamydophila Infections, Aged, Aged, 80 and over, Polymorphism, Genetic, Chlamydia, biology, business.industry, Chlamydophila pneumoniae, Middle Aged, Macular degeneration, biology.organism_classification, medicine.disease, Antibodies, Bacterial, eye diseases, Ophthalmology, Logistic Models, Austria, Case-Control Studies, Complement Factor H, Immunoglobulin G, Factor H, Chlamydiales, Immunology, Female, sense organs, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2933c23225dbab685b3b827758b8cbae
https://doi.org/10.1038/eye.2008.422

المؤلفون: S. Binder, K. Steindl

المصدر: Spektrum der Augenheilkunde. 22:357-361

مصطلحات موضوعية: Retinal degeneration, medicine.medical_specialty, Retinal pigment epithelium, genetic structures, Blindness, business.industry, Retinal, Degeneration (medical), medicine.disease, eye diseases, Transplantation, Ophthalmology, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Basic research, medicine, sense organs, business, Retinal regeneration

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::57ab00fa0efaa5c3465b1137b6cfe953
https://doi.org/10.1007/s00717-008-0292-7

المؤلفون: Stefan Seidel, W. Krugluger, K. Steindl, Susanne Binder

المصدر: Graefe's Archive for Clinical and Experimental Ophthalmology. 245:1543-1548

مصطلحات موضوعية: cis-trans-Isomerases, Beta-catenin, Transcription, Genetic, Cell Line, Glycogen Synthase Kinase 3, Cellular and Molecular Neuroscience, Epidermal growth factor, GSK-3, medicine, Humans, RNA, Messenger, Insulin-Like Growth Factor I, Eye Proteins, Pigment Epithelium of Eye, Glycogen synthase, beta Catenin, Cell Proliferation, Retinal pigment epithelium, Epidermal Growth Factor, Keratin-18, biology, Reverse Transcriptase Polymerase Chain Reaction, Cell growth, Wnt signaling pathway, Recombinant Proteins, Sensory Systems, Cell biology, Ophthalmology, medicine.anatomical_structure, Cell culture, biology.protein, sense organs, Carrier Proteins

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27c290c55719fc76c59781d8e79790f4
https://doi.org/10.1007/s00417-007-0635-0

المؤلفون: L. Simmons, Barbara Plecko, Bernhard Schmitt, Massimo Mastrangelo, P. Joset, M. Papuc, K. Steindl, Lisa M. Crowther, Lucia Abela, Déborah Mathis, Anita Rauch

المصدر: European Journal of Paediatric Neurology. 19:S40-S41

مصطلحات موضوعية: Sanger sequencing, biology, Encephalopathy, Spermine, General Medicine, Bioinformatics, medicine.disease, Omics, symbols.namesake, chemistry.chemical_compound, chemistry, Spermine synthase, Pediatrics, Perinatology and Child Health, symbols, medicine, biology.protein, Missense mutation, Biomarker (medicine), Neurology (clinical), Exome sequencing

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::448989597c9d4acbfc0098cddeb2801d
https://doi.org/10.1016/s1090-3798(15)30131-8

المؤلفون: VINGOLO, Enzo Maria, ONORI, PAOLO, A. Iannaccone, K. Steindl, E. Rispoli

المساهمون: Vingolo, Enzo Maria, A., Iannaccone, Onori, Paolo, K., Steindl, E., Rispoli

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:A1992HK13500744; ispartofbook:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; volume:33; firstpage:840; lastpage:840; numberofpages:1; journal:INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE; http://hdl.handle.net/11573/507781

الاتاحة: http://hdl.handle.net/11573/507781

المؤلفون: A.M. Alazami, S.A. Schneider, D. Bonneau, L. Pasquier, M. Carecchio, M. Kojovic, K. Steindl, M. de Kerdanet, M.M. Nezarati, K.P. Bhatia, B. Degos, E. Goh, F.S. Alkuraya

المصدر: Clinical Genetics

مصطلحات موضوعية: Adolescent, Adult, Alopecia/genetics, Arrhythmias, Cardiac/genetics, Basal Ganglia Diseases, Base Sequence, Child, Chromosomes, Human, Pair 2/genetics, Cohort Studies, Diabetes Mellitus/genetics, Humans, Hypogonadism/genetics, Intellectual Disability/genetics, Male, Molecular Sequence Data, Mutation, Nuclear Proteins/genetics, Open Reading Frames/genetics, Ubiquitin-Protein Ligase Complexes

Relation: http://okina.univ-angers.fr/publications/ua8184

الاتاحة: http://okina.univ-angers.fr/publications/ua8184
https://doi.org/10.1111/j.1399-0004.2010.01441.x

المؤلفون: Mario R. Pannarale, L Zompatori, Alessandro Iannaccone, A Sciarra, Renato Forte, G. Del Porto, K. Steindl, Enzo Maria Vingolo

المساهمون: University of Zurich, Forte, R

المصدر: Scopus-Elsevier

مصطلحات موضوعية: Genetics, 2716 Genetics (clinical), medicine.medical_specialty, 10039 Institute of Medical Genetics, business.industry, Eye disease, Autosomal dominant trait, 610 Medicine & health, medicine.disease, Penetrance, Microphthalmia, Microcornea, 1311 Genetics, Ophthalmology, 570 Life sciences, biology, Medicine, Microphthalmos, Abnormality, business, Genetics (clinical), Simple microphthalmos

وصف الملف: 721.full.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a998cca0cd32b6591c755b697542c53f
https://doi.org/10.1136/jmg.31.9.721

المؤلفون: Susanna Scarpa, M. Nazzaro-Porro, Mauro Picardo, K. Steindl, G. Del Porto, Paola Grammatico

المساهمون: University of Zurich, Del Porto, G

المصدر: Mutation Research/Genetic Toxicology. 300:119-123

مصطلحات موضوعية: Genetic Markers, medicine.medical_specialty, Time Factors, Azelaic acid, 10039 Institute of Medical Genetics, 610 Medicine & health, Biology, Toxicology, Chromosomes, Giemsa stain, 1311 Genetics, Tumor Cells, Cultured, Genetics, medicine, Humans, Dicarboxylic Acids, Melanoma, Cytogenetics, 3005 Toxicology, Karyotype, Biological activity, medicine.disease, In vitro, Cell culture, Karyotyping, Immunology, Cancer research, 570 Life sciences, biology, Cell Division, medicine.drug

وصف الملف: 1-s2.0-0165121893901292-main.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2ead41d30a1b9d9d2c6eae3d5a02a1a
https://doi.org/10.1016/0165-1218(93)90129-2

المؤلفون: Gregory S. Hageman, Susanne Binder, Katharina E. Schmid-Kubista, K. Steindl, W. Krugluger, Paulina Haas, Tina Aggermann

مصطلحات موضوعية: Male, Vascular Endothelial Growth Factor A, medicine.medical_specialty, Genotype, VEGF receptors, Enzyme-Linked Immunosorbent Assay, Gastroenterology, Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Article, White People, Cellular and Molecular Neuroscience, chemistry.chemical_compound, Macular Degeneration, Internal medicine, Medicine, Humans, In patient, Aged, Genetics, Aged, 80 and over, biology, business.industry, Macular degeneration, Middle Aged, medicine.disease, Exudative age-related macular degeneration, eye diseases, Sensory Systems, Genotype frequency, Vascular endothelial growth factor, Ophthalmology, chemistry, Case-Control Studies, Complement Factor H, biology.protein, Female, business, Vascular endothelial growth factor-165, Polymorphism, Restriction Fragment Length

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29e1f615c403e358d935e35abf58178e
https://europepmc.org/articles/PMC4853911/

المؤلفون: GRAMMATICO, Paola, BOTTONI, Ugo, K. Steindl, A. Heouaine, C. Dirosa, C. Debernardo, G. Delporto, CARLESIMO, Marta

المساهمون: Grammatico, Paola, Bottoni, Ugo, K., Steindl, A., Heouaine, Carlesimo, Marta, C., Dirosa, C., Debernardo, G., Delporto

مصطلحات موضوعية: chromosomal marker, cytogenetic study, t-cell lymphoma

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/wos/WOS:A1993MC62300009; volume:12; firstpage:179; lastpage:184; numberofpages:6; journal:JOURNAL OF EXPERIMENTAL & CLINICAL CANCER RESEARCH; http://hdl.handle.net/11573/120013; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-0027451302; http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=A1993MC62300009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a

الاتاحة: http://hdl.handle.net/11573/120013
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=A1993MC62300009&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=0c7ff228ccbaaa74236f48834a34396a

المؤلفون: K. Steindl, Anita Rauch, Oliver Maier, G Jaeger, S Pajarola, Pascal Joset

المصدر: European Journal of Paediatric Neurology. 17:S57-S58

مصطلحات موضوعية: Burst suppression, business.industry, Epileptic encephalopathy, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Cancer research, Medicine, Neurology (clinical), General Medicine, business, Gene

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::538f085fb4598d099b0067d28c92cca6
https://doi.org/10.1016/s1090-3798(13)70193-4

المؤلفون: Eduardo Rispoli, Mario R. Pannarale, Alessandro Iannaccone, Enzo Maria Vingolo, Daniela Rispoli, K. Steindl, Paolo Onori

المساهمون: University of Zurich, Iannaccone, A

المصدر: Documenta ophthalmologica. Advances in ophthalmology. 90(2)

مصطلحات موضوعية: visual field, Adult, medicine.medical_specialty, genetic structures, Adolescent, 10039 Institute of Medical Genetics, Eye disease, electroretinogram, 610 Medicine & health, Isometric exercise, Audiology, Summation, 2809 Sensory Systems, 2737 Physiology (medical), Physiology (medical), Retinitis pigmentosa, medicine, kinetic perimetry, Electroretinography, Psychophysics, Humans, Child, Aged, Retina, medicine.diagnostic_test, arrp - autosomal recessive retinitis pigmentosa, Middle Aged, medicine.disease, 2731 Ophthalmology, eye diseases, Sensory Systems, Visual field, adrp - autosomal dominant retinitis pigmentosa, Ophthalmology, medicine.anatomical_structure, 570 Life sciences, biology, Visual Field Tests, sense organs, Visual Fields, Psychology, retinitis pigmentosa, psychophysics, Retinitis Pigmentosa, Retinopathy

وصف الملف: Iannaccone1995_Article_CorrelationBetweenGoldmannPeri.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6b5e65a5f28c417e9a4a69c6a2b6278
https://pubmed.ncbi.nlm.nih.gov/7497885

المؤلفون: K. Steindl, G. Del Porto, Mario R. Pannarale, Alessandro Iannaccone, Enzo Maria Vingolo, Renato Forte, Eduardo Rispoli

المساهمون: University of Zurich, Del Porto, G

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Pathology, genetic structures, Adolescent, Color vision, 10039 Institute of Medical Genetics, Eye disease, media_common.quotation_subject, 2804 Cellular and Molecular Neuroscience, 610 Medicine & health, Audiology, Contrast Sensitivity, Cellular and Molecular Neuroscience, 2809 Sensory Systems, Atrophy, Optic Atrophies, Hereditary, medicine, Contrast (vision), Cranial nerve disease, Humans, Subclinical infection, media_common, Genes, Dominant, business.industry, Middle Aged, medicine.disease, 2731 Ophthalmology, Sensory Systems, Pedigree, Ophthalmology, Visual function, Optic nerve, Evoked Potentials, Visual, Visual Field Tests, 570 Life sciences, biology, Female, medicine.symptom, Visual Fields, business, Color Perception, Photic Stimulation

وصف الملف: Porto1994_Article_ClinicalHeterogeneityOfDominan.pdf - application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::868b0f3262afcbe1b7c8ad44d99ab61f
https://doi.org/10.5167/uzh-192493

المؤلفون: Renato Forte, Mario R. Pannarale, Enzo Maria Vingolo, Giuseppe Del Porto, Heike Wedemann, Alessandro Iannaccone, K. Steindl, Andreas Gal, Dezsö David

المصدر: Retinal Degeneration ISBN: 9781461362944

مصطلحات موضوعية: Retinal degeneration, Genetics, Mutation, Pedigree chart, Rhodopsin Gene, Biology, medicine.disease, medicine.disease_cause, Phenotype, eye diseases, Locus heterogeneity, Retinitis pigmentosa, medicine, Photopigment

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::c2fc156b63561a148013a84cd99175b0
https://doi.org/10.1007/978-1-4615-2974-3_9

المؤلفون: Paola Grammatico, C. Mordenti, M. Governatori, K. Steindl, G. Del Porto, C. Di Rosa

المصدر: Cancer Genetics and Cytogenetics. 77:194

مصطلحات موضوعية: Cancer Research, Pathology, medicine.medical_specialty, Ureter, medicine.anatomical_structure, Cell culture, Genetics, medicine, Immunohistochemistry, Biology, Molecular Biology, Urothelial carcinoma

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::6b6c7e3f2ee0cd3415748dd0595081c1
https://doi.org/10.1016/0165-4608(94)90411-1