Zobrazeno 1 - 10
of 6 774
pro vyhledávání: '"usher"'
Autor:
Khan AO; Eye Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of CWRU, Cleveland, Ohio, USA.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Dec; Vol. 45 (6), pp. 566-570. Date of Electronic Publication: 2024 Jul 17.
Autor:
Bauwens M; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Man V; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Audo I; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France., Balikova I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Zein WM; Ophthalmic Genetics and Visual Function Branch, NEI, NIH, Bethesda, Maryland, USA., Smirnov V; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France.; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France., Held S; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany., Vermeer S; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Loos E; Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.; Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology (ExpORL), KU Leuven, University of Leuven, Leuven, Belgium., Jacob J; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium., Casteels I; Department of Ophthalmology, University Hospital Leuven, Leuven, Belgium.; Biomedical Sciences Group, Department of Neurosciences, Research Group Ophthalmology, Leuven, Belgium., Désir J; Center for Medical Genetics, Institut de Pathologie et de Génétique Gosselies, Charleroi, Belgium., Depasse F; Department of Pediatric Ophthalmology, Queen Fabiola Children's University Hospital (HUDERF), Brussels, Belgium., Van de Sompele S; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Van Heetvelde M; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., De Bruyne M; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Andrieu C; Centre Hospitalier National d'Ophtalmologie des Quinze-Vingts, Centre de Référence Maladies Rares REFERET and INSERM-DGOS CIC 1423, Paris, France., Condroyer C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Antonio A; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., Hufnagel R; Ophthalmic Genetics and Visual Function Branch, NEI, NIH, Bethesda, Maryland, USA.; Pathology Department, Genetics Department, Center for Integrated Healthcare Research, Kaiser Permanente, Honolulu, Hawaii, USA., Carvalho AL; Medical Genetics Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; Clinical Academic Center of Coimbra (CACC), Coimbra, Portugal.; University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal., Marques JP; University Clinic of Medical Genetics, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.; Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal.; University Clinic of Ophthalmology, Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal.; Institute for Clinical and Biomedical Research (iCBR), Faculty of Medicine, University of Coimbra (FMUC), Coimbra, Portugal., Zeitz C; Sorbonne Université, INSERM, CNRS, Institut de la Vision, Paris, France., De Baere E; Center for Medical Genetics, Ghent University Hospital & Department of Biomolecular Medicine, Ghent University, Ghent, Belgium., Damme M; Christian-Albrechts-University Kiel, Institute of Biochemistry, Kiel, Germany.
Publikováno v:
Clinical genetics [Clin Genet] 2025 Jan; Vol. 107 (1), pp. 44-55. Date of Electronic Publication: 2024 Aug 28.
Autor:
Amorim AM; Department of Otorhinolaryngology, Coimbra University Hospital Centre, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal., Ramada AB; Department of Otorhinolaryngology, Coimbra University Hospital Centre, Coimbra, Portugal., Lopes AC; Department of Otorhinolaryngology, Coimbra University Hospital Centre, Coimbra, Portugal., Lemos J; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.; Department of Neurology, Coimbra University Hospital Centre, Coimbra, Portugal., Ribeiro JC; Department of Otorhinolaryngology, Coimbra University Hospital Centre, Coimbra, Portugal.; Faculty of Medicine, University of Coimbra, Coimbra, Portugal.
Publikováno v:
Ear and hearing [Ear Hear] 2025 Jan-Feb 01; Vol. 46 (1), pp. 44-52. Date of Electronic Publication: 2024 Jul 25.
Autor:
Fehrmann MLA; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Lanting CP; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Haer-Wigman L; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Yntema HG; Department of Clinical Genetics, Radboud University Medical Center, Nijmegen, The Netherlands., Mylanus EAM; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Huinck WJ; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands., Pennings RJE; Department of Otorhinolaryngology, Radboud University Medical Center, Nijmegen, The Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Nijmegen, The Netherlands.
Publikováno v:
Ear and hearing [Ear Hear] 2024 Nov-Dec 01; Vol. 45 (6), pp. 1542-1553. Date of Electronic Publication: 2024 Jul 11.
Autor:
Li S; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China; Department of Ophthalmology, Eye Institute of Chinese PLA, Xijing Hospital, Air Force Medical University, Xi'an 710032, China., Jiang Y; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China., Zhang L; Shaanxi Eye Hospital, Xi'an People's Hospital (Xi'an Fourth Hospital), Xi'an 710004, Shaanxi Province, China., Yan W; The 900th Hospital of Joint Logistic Support Force, PLA, Fuzhou 350000, China., Wei D; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China., Zhang M; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China., Zhu B; Outpatient Department, General Hospital of Xizang Military Region, Lhasa 850007, China., Chen T; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China; Department of Aviation Medicine, Xijing Hospital, Air Force Medical University, Xi'an 710032, China., Wang X; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China; Department of Aviation Medicine, Xijing Hospital, Air Force Medical University, Xi'an 710032, China. Electronic address: wxcnose@126.com., Zhang Z; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China. Electronic address: zhangzm@fmmu.edu.cn., Su Y; Center of Clinical Aerospace Medicine, School of Aerospace Medicine, Air Force Medical University, Xi'an 710032, China; Department of Aviation Medicine, Xijing Hospital, Air Force Medical University, Xi'an 710032, China. Electronic address: sssusyt@163.com.
Publikováno v:
Gene [Gene] 2024 Sep 05; Vol. 922, pp. 148562. Date of Electronic Publication: 2024 May 15.
Autor:
Alzahem TA; Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.; Ophthalmology Department, King Saud University Medical City, Riyadh, Saudi Arabia., AlTheeb A; Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia., Ba-Abbad R; Ocular Genetics Service, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Publikováno v:
Ophthalmic genetics [Ophthalmic Genet] 2024 Aug; Vol. 45 (4), pp. 404-408. Date of Electronic Publication: 2024 Apr 15.
Autor:
Ivanchenko MV; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Hathaway DM; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Mulhall EM; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Booth KT; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Wang M; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Peters CW; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Klein AJ; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Chen X; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., Li Y; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA., György B; Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland.; Department of Ophthalmology, University of Basel, Basel, Switzerland., Corey DP; Department of Neurobiology, Harvard Medical School, Boston, Massachusetts, USA.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2024 Oct 23; Vol. 134 (23). Date of Electronic Publication: 2024 Oct 23.
Autor:
Cao W; Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, China., Kuang L; Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, China., Gan R; Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, China., Huang T; Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, China., Yan X; Shenzhen Eye Hospital, Jinan University, Shenzhen Eye Institute, Shenzhen, China. Electronic address: xhyan@jnu.edu.cn.
Publikováno v:
Experimental eye research [Exp Eye Res] 2024 Oct; Vol. 247, pp. 110047. Date of Electronic Publication: 2024 Aug 14.
Autor:
Wang S; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China.; Department of Otolaryngology-Head and Neck Surgery, Maternal and Child Health Hospital of Gansu Province, Lanzhou, China., Xu CY; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China., Zhu Y; Department of Otolaryngology-Head and Neck Surgery, Gansu Provincial Hospital, Lanzhou, Gansu Province, China., Ding W; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China., Hu J; Department of Otolaryngology-Head and Neck Surgery, Maternal and Child Health Hospital of Gansu Province, Lanzhou, China., Xu B; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China., Guo Y; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China. gyflhmm@163.com., Liu X; Department of Otolaryngology-Head and Neck Surgery, Lanzhou University Second Hospital, No. 82 Cuiyingmen, Lanzhou, Gansu, 730030, PR China. lxw770012@126.com.; Department of Otolaryngology-Head and Neck Surgery, Maternal and Child Health Hospital of Gansu Province, Lanzhou, China. lxw770012@126.com.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2024 Sep 20; Vol. 19 (1), pp. 349. Date of Electronic Publication: 2024 Sep 20.
Autor:
Tom WA; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA., Chandel DS; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA., Jiang C; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA., Krzyzanowski G; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA., Fernando N; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA., Olou A; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA., Fernando MR; Molecular Diagnostic Research Laboratory, Center for Sensory Neuroscience, Boys Town National Research Hospital, Omaha, NE 68010, USA.
Publikováno v:
International journal of molecular sciences [Int J Mol Sci] 2024 Sep 17; Vol. 25 (18). Date of Electronic Publication: 2024 Sep 17.