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    Wyświetlanie 1-8 z 8
    Tytuł:
    Towards Uncovering the Role of Incomplete Penetrance in Maculopathies through Sequencing of 105 Disease-Associated Genes.
    Autorzy:
    Hitti-Malin RJ; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
    Panneman DM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
    Corradi Z; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
    Boonen EGM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
    Astuti G; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
    Dhaenens CM; Univ. Lille, Inserm, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, F-59000 Lille, France.
    Stöhr H; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.
    Weber BHF; Institute of Human Genetics, University of Regensburg, 93053 Regensburg, Germany.; Institute of Clinical Human Genetics, University Hospital Regensburg, 93053 Regensburg, Germany.
    Sharon D; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
    Banin E; Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, The Hebrew University of Jerusalem, Jerusalem 91120, Israel.
    Karali M; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.
    Banfi S; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli', 80138 Naples, Italy.; Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), 80078 Pozzuoli, Italy.
    Ben-Yosef T; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 31096, Israel.
    Glavač D; Department of Molecular Genetics, Institute of Pathology, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.; Center for Human Genetics and Pharmacogenomics, Faculty of Medicine, University of Maribor, 2000 Maribor, Slovenia.
    Farrar GJ; The School of Genetics and Microbiology, The University of Dublin Trinity College, D02 VF25 Dublin, Ireland.
    Ayuso C; Department of Genetics, Health Research Institute-Fundación Jiménez Díaz University Hospital, Universidad Autónoma de Madrid (IIS-FJD, UAM), 28049 Madrid, Spain.; Center for Biomedical Network Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, 28029 Madrid, Spain.
    Liskova P; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
    Dudakova L; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
    Vajter M; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.; Department of Ophthalmology, First Faculty of Medicine, Charles University and General University Hospital in Prague, 128 08 Prague, Czech Republic.
    Ołdak M; Department of Histology and Embryology, Medical University of Warsaw, 02-004 Warsaw, Poland.
    Szaflik JP; Department of Ophthalmology, Medical University of Warsaw, SPKSO Ophthalmic University Hospital, 03-709 Warsaw, Poland.
    Matynia A; College of Optometry, University of Houston, Houston, TX 77004, USA.; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.; Ophthalmology, University of California Los Angeles David Geffen School of Medicine, Los Angeles, CA 90095, USA.
    Gorin MB; Jules Stein Eye Institute, Los Angeles, CA 90095, USA.
    Kämpjärvi K; Blueprint Genetics, 02150 Espoo, Finland.
    Bauwens M; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
    De Baere E; Department of Biomolecular Medicine, Ghent University, 9000 Ghent, Belgium.; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium.
    Hoyng CB; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
    Li CHZ; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
    Klaver CCW; Department of Ophthalmology, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
    Inglehearn CF; Division of Molecular Medicine, Leeds Institute of Medical Research, St. James's University Hospital, University of Leeds, Leeds LS9 7TF, UK.
    Fujinami K; Department of Ophthalmology, The Jikei University School of Medicine, Tokyo 105-8461, Japan.
    Rivolta C; Institute of Molecular and Clinical Ophthalmology Basel, 4031 Basel, Switzerland.
    Allikmets R; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.; Department of Pathology & Cell Biology, Columbia University, New York, NY 10027, USA.
    Zernant J; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.
    Lee W; Department of Ophthalmology, Columbia University, New York, NY 10027, USA.
    Podhajcer OL; Laboratorio de Terapia Molecular y Celular (Genocan), Fundación Instituto Leloir, CONICET, Buenos Aires 1405, Argentina.
    Fakin A; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
    Sajovic J; Eye Hospital, University Medical Centre Ljubljana, 1000 Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
    AlTalbishi A; St John of Jerusalem Eye Hospital Group, East Jerusalem 91198, Palestine.
    Valeina S; Department of Ophthalmology, Riga Stradins University, LV-1007 Riga, Latvia.; Children's Clinical University Hospital, LV-1004 Riga, Latvia.
    Taurina G; Children's Clinical University Hospital, LV-1004 Riga, Latvia.
    Vincent AL; Department of Ophthalmology, New Zealand National Eye Centre, Faculty of Medical and Health Sciences, The University of Auckland, Grafton, Auckland 1023, New Zealand.; Eye Department, Greenlane Clinical Centre, Auckland District Health Board, Auckland 1142, New Zealand.
    Roberts L; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
    Ramesar R; University of Cape Town/MRC Precision and Genomic Medicine Research Unit, Division of Human Genetics, Department of Pathology, Institute of Infectious Disease and Molecular Medicine (IDM), Faculty of Health Sciences, University of Cape Town, Cape Town 7925, South Africa.
    Sartor G; Department of Pharmacy and Biotechnology, University of Bologna, 40127 Bologna, Italy.
    Luppi E; Department of Medical and Surgical Sciences, University of Bologna, 40127 Bologna, Italy.; Unit of Medical Genetics, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy.
    Downes SM; Nuffield Laboratory of Ophthalmology, Nuffield Department of Clinical Neurosciences, Oxford University, Oxford OX3 9DU, UK.; Oxford Eye Hospital, Oxford University NHS Foundation Trust, Oxford OX3 9DU, UK.
    van den Born LI; The Rotterdam Eye Hospital, 3011 BH Rotterdam, The Netherlands.
    McLaren TL; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
    De Roach JN; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
    Lamey TM; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
    Thompson JA; Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Nedlands, WA 6009, Australia.
    Chen FK; Centre for Ophthalmology and Visual Science, The University of Western Australia, Nedlands, WA 6009, Australia.
    Tracewska AM; Datana Solutions, 54-530 Wroclaw, Poland.
    Kamakari S; Ophthalmic Genetics Unit, OMMA Ophthalmological Institute of Athens, 115 25 Athens, Greece.
    Sallum JMF; Department of Ophthalmology and Visual Sciences, Universidade Federal de São Paulo, São Paulo 04023-062, SP, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, SP, Brazil.
    Bolz HJ; Institute of Human Genetics, University Hospital of Cologne, 50937 Cologne, Germany.
    Kayserili H; Department of Medical Genetics, Koc University School of Medicine (KUSOM), 34450 Istanbul, Turkey.
    Roosing S; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
    Cremers FPM; Department of Human Genetics, Radboud University Medical Center, 6500 HB Nijmegen, The Netherlands.
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    Źródło:
    Biomolecules [Biomolecules] 2024 Mar 19; Vol. 14 (3). Date of Electronic Publication: 2024 Mar 19.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Macular Degeneration*/genetics
    Humans ; Mutation ; Penetrance ; Pedigree ; Retina ; Phenotype ; ATP-Binding Cassette Transporters/genetics ; Eye Proteins ; Cadherin Related Proteins ; Nerve Tissue Proteins/genetics
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Genotypic-Phenotypic Correlations of Hereditary Hyperferritinemia-Cataract Syndrome: Case Series of Three Brazilian Families.
    Autorzy:
    Zin OA; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil.; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil.
    Neves LM; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.; Department of Ophthalmology, Universidade do Estado do Rio de Janeiro, Rio de janeiro 20551-030, Brazil.
    Cunha DP; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
    Motta FL; Instituto de Genética Ocular, São Paulo 04552-050, Brazil.
    Agonigi BNS; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
    Horovitz DDG; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
    Almeida DC Jr; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
    Malacarne J; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
    Rodrigues APS; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil.
    Carvalho AB; Instituto Nacional de Cardiologia, Rio de Janeiro 22240-006, Brazil.
    Rivello CA; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil.; Instituto Catarata Infantil, Rio de Janeiro 22250-040, Brazil.
    Espariz R; Department of Hematology, Hospital Federal Cardoso Fontes, Rio de Janeiro 22745-130, Brazil.
    Zin AA; Instituto Brasileiro de Oftalmologia, Rio de Janeiro 22250-040, Brazil.; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.; Instituto Catarata Infantil, Rio de Janeiro 22250-040, Brazil.
    Sallum JMF; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo 04039-032, Brazil.; Instituto de Genética Ocular, São Paulo 04552-050, Brazil.
    Vasconcelos ZFM; Instituto Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
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    Źródło:
    International journal of molecular sciences [Int J Mol Sci] 2023 Jul 25; Vol. 24 (15). Date of Electronic Publication: 2023 Jul 25.
    Typ publikacji:
    Case Reports
    MeSH Terms:
    Hyperferritinemia*
    Iron Metabolism Disorders*/pathology
    Cataract*/pathology
    Humans ; Brazil ; Pedigree ; Mutation
    SCR Disease Name:
    Hyperferritinemia, hereditary, with congenital cataracts
    Raport
    Pełny tekst  Link otwiera się w nowym oknieSzczegóły
    Tytuł:
    Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
    Autorzy:
    Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.; Department of Neurosciences, Biomedicine and Movement Sciences University of Verona Verona Italy.
    Cali E; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London London United Kingdom.
    Braga VL; Department of Neurology Universidade Federal de São Paulo São Paulo Brazil.
    Yis U; Division of Pediatric Neurology, Department of Pediatrics Dokuz Eylül University Faculty of Medicine İzmir Turkey.
    Tomoum H; Department of Pediatrics Ain Shams University Cairo Egypt.
    Shamseldin H; Department of Genetics King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
    Raiman J; Department of Inherited Metabolic Disease Birmingham Children's Hospital Birmingham United Kingdom.
    Kernstock C; Center for Ophthalmology Institute for Ophthalmic Research, University of Tübingen Tübingen Germany.
    Rezende Filho FM; Department of Neurology Universidade Federal de São Paulo São Paulo Brazil.
    Barsottini OGP; Department of Neurology Universidade Federal de São Paulo São Paulo Brazil.
    Taylor RW; Wellcome Centre for Mitochondrial Research, Translational and Clinical Research Institute, Faculty of Medical Sciences Newcastle University Newcastle upon Tyne United Kingdom.
    Østergaard E; Department of Clinical Genetics Copenhagen University Hospital Rigshospitalet Copenhagen Denmark.; Department of Clinical Medicine University of Copenhagen Copenhagen Denmark.
    Tamim A; Department of Pediatric Neurology King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.
    Schäferhoff K; Institute of Human Genetics and Applied Genomics University of Tübingen Tübingen Germany.
    Sallum JMF; Department of Ophthalmology Universidade Federal de São Paulo (UNIFESP) São Paulo Brazil.
    Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute National Research Centre Cairo Egypt.
    Kok F; Department of Neurology Universidade de São Paulo (USP) São Paulo Brazil.; Mendelics Genomic Analysis São Paulo Brazil.
    Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology University College London London United Kingdom.
    Wissinger B; Center for Ophthalmology Institute for Ophthalmic Research, University of Tübingen Tübingen Germany.
    Sergeant K; Oxford Genetics Laboratories Oxford University Hospitals NHS Foundation Trust Oxford United Kingdom.
    Haack TB; Institute of Human Genetics and Applied Genomics University of Tübingen Tübingen Germany.; Centre for Rare Diseases University of Tübingen Tübingen Germany.
    Horvath R; Department of Clinical Neurosciences University of Cambridge, John Van Geest Cambridge Centre for Brain Repair Cambridge United Kingdom.
    Hiz S; Division of Pediatric Neurology, Department of Pediatrics Dokuz Eylül University Faculty of Medicine İzmir Turkey.
    Alkuraya FS; Department of Translational Genomics Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia.; Department of Anatomy and Cell Biology College of Medicine, Alfaisal University Riyadh Saudi Arabia.
    Houlden H; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London London United Kingdom.
    Pedroso JL; Department of Neurology Universidade Federal de São Paulo São Paulo Brazil.
    Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London London United Kingdom.
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    Źródło:
    Movement disorders clinical practice [Mov Disord Clin Pract] 2022 Jan 03; Vol. 9 (2), pp. 218-228. Date of Electronic Publication: 2022 Jan 03 (Print Publication: 2022).
    Typ publikacji:
    Journal Article
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Retinitis Pigmentosa Due to Rp1 Biallelic Variants.
    Autorzy:
    Silva RS; Department of Ophthalmology, Ophthalmology Institute Dr. Gama Pinto, Lisbon, Portugal.
    Salles MV; Department of Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil.
    Motta FL; Department of Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil.
    Sallum JMF; Department of Ophthalmology, Federal University of Sao Paulo, Sao Paulo, Brazil. .
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    Źródło:
    Scientific reports [Sci Rep] 2020 Jan 31; Vol. 10 (1), pp. 1603. Date of Electronic Publication: 2020 Jan 31.
    Typ publikacji:
    Journal Article
    MeSH Terms:
    Microtubule-Associated Proteins/*genetics
    Mutation/*genetics
    Retinitis Pigmentosa/*genetics
    Adolescent ; Adult ; Alleles ; Brazil ; Eye Proteins/genetics ; Female ; Humans ; Male ; Middle Aged ; Pedigree ; Prognosis ; Retina/pathology ; Retrospective Studies ; Visual Acuity/genetics ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Relative frequency of inherited retinal dystrophies in Brazil.
    Autorzy:
    Motta FL; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.
    Martin RP; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.; Institute of Genetic Medicine, Johns Hopkins Medicine, Baltimore, USA.
    Filippelli-Silva R; Department of Biophysics, Universidade Federal de São Paulo, São Paulo, Brazil.
    Salles MV; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil.
    Sallum JMF; Department of Ophthalmology, Universidade Federal de São Paulo, São Paulo, Brazil. .; Instituto de Genética Ocular, Sao Paulo, Brazil. .
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    Źródło:
    Scientific reports [Sci Rep] 2018 Oct 29; Vol. 8 (1), pp. 15939. Date of Electronic Publication: 2018 Oct 29.
    Typ publikacji:
    Journal Article; Research Support, Non-U.S. Gov't
    MeSH Terms:
    Retinal Dystrophies/*diagnosis
    ATP-Binding Cassette Transporters/genetics ; Adaptor Proteins, Signal Transducing/genetics ; Antigens, Neoplasm/genetics ; Brazil/epidemiology ; Cell Cycle Proteins ; Cytoskeletal Proteins ; Eye Proteins/genetics ; Genetic Testing ; Humans ; Leber Congenital Amaurosis/diagnosis ; Leber Congenital Amaurosis/epidemiology ; Leber Congenital Amaurosis/genetics ; Macular Degeneration/congenital ; Macular Degeneration/diagnosis ; Macular Degeneration/epidemiology ; Macular Degeneration/genetics ; Membrane Proteins/genetics ; Neoplasm Proteins/genetics ; Nerve Tissue Proteins/genetics ; Polymorphism, Genetic ; Prevalence ; Retinal Dystrophies/epidemiology ; Retinal Dystrophies/genetics ; Retinitis Pigmentosa/diagnosis ; Retinitis Pigmentosa/epidemiology ; Retinitis Pigmentosa/genetics ; Retrospective Studies ; Stargardt Disease
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
    Tytuł:
    Progressive expansion of the hyperautofluorescent ring in cone-rod dystrophy patients.
    Autorzy:
    Lima LH; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.
    Zett C; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.; b Department of Ophthalmology , Pontificia Universidad Católica de Valparaíso , Valparaíso , Chile.
    Kniggendorf V; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.
    Marianelli B; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.
    de Carvalho RAP; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.
    Farah ME; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.
    Sallum JMF; a Department of Ophthalmology , Federal University of Sao Paulo (UNIFESP) , São Paulo , Brazil.
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    Źródło:
    Ophthalmic genetics [Ophthalmic Genet] 2018 Aug; Vol. 39 (4), pp. 492-499. Date of Electronic Publication: 2018 Apr 19.
    Typ publikacji:
    Case Reports; Journal Article
    MeSH Terms:
    Cone-Rod Dystrophies/*diagnosis
    Retina/*pathology
    Adolescent ; Adult ; Electroretinography ; Female ; Follow-Up Studies ; Humans ; Male ; Optical Imaging ; Retrospective Studies ; Tomography, Optical Coherence ; Visual Acuity ; Visual Field Tests ; Visual Fields ; Young Adult
    Czasopismo naukowe
    Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
      Wyświetlanie 1-8 z 8

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