Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment.
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| Title: | Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. |
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| Authors: | Bahena P; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Daftarian N; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK., Linares P; Universidad Nacional Autónoma de México, Mexico City, Mexico., Villalobos D; Department of Bioinformatics, University of Würzburg, Würzburg, Germany., Mirrahimi M; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Rad A; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany., Doll J; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Hofrichter MAH; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Koparir A; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Röder T; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Han S; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany., Sabbaghi H; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran., Ahmadieh H; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran., Behboudi H; Amiralmomenin Hospital, Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran., Villanueva-Mendoza C; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico., Cortés-Gonzalez V; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico., Zamora-Ortiz R; Ophthalmic Department, Instituto de Seguridad y Servicios sociales de los Trabajadores del Estado, Hospital de Alta Especialidad, Puebla, Mexico., Kohl S; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany., Kuehlewein L; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany.; University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany., Darvish H; Faculty of Medicine, Neuroscience Research Center, Golestan University of Medical Sciences, Gorgan, Iran., Alehabib E; Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Arenas-Sordo ML; Department of Genetics, National Institute of Rehabilitation Luis Guillermo Ibarra (INR), Mexico City, Mexico., Suri F; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran. fatemehsuri@gmail.com., Vona B; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. barbara.vona@uni-tuebingen.de.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany. barbara.vona@uni-tuebingen.de., Haaf T; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. thomas.haaf@uni-wuerzburg.de. |
| Source: | Human genetics [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 785-803. Date of Electronic Publication: 2021 Jun 20. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 34148116 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Bahena+P%22">Bahena P</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Daftarian+N%22">Daftarian N</searchLink>; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Maroofian+R%22">Maroofian R</searchLink>; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.<br /><searchLink fieldCode="AU" term="%22Linares+P%22">Linares P</searchLink>; Universidad Nacional Autónoma de México, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Villalobos+D%22">Villalobos D</searchLink>; Department of Bioinformatics, University of Würzburg, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Mirrahimi+M%22">Mirrahimi M</searchLink>; Ocular Tissue Engineering Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Rad+A%22">Rad A</searchLink>; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Doll+J%22">Doll J</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Hofrichter+MAH%22">Hofrichter MAH</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Koparir+A%22">Koparir A</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Röder+T%22">Röder T</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Han+S%22">Han S</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany.<br /><searchLink fieldCode="AU" term="%22Sabbaghi+H%22">Sabbaghi H</searchLink>; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran.<br /><searchLink fieldCode="AU" term="%22Ahmadieh+H%22">Ahmadieh H</searchLink>; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran.<br /><searchLink fieldCode="AU" term="%22Behboudi+H%22">Behboudi H</searchLink>; Amiralmomenin Hospital, Eye Research Center, Guilan University of Medical Sciences, Rasht, Iran.<br /><searchLink fieldCode="AU" term="%22Villanueva-Mendoza+C%22">Villanueva-Mendoza C</searchLink>; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Cortés-Gonzalez+V%22">Cortés-Gonzalez V</searchLink>; Genetics Department, Asociación Para Evitar la Ceguera en México (APEC), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Zamora-Ortiz+R%22">Zamora-Ortiz R</searchLink>; Ophthalmic Department, Instituto de Seguridad y Servicios sociales de los Trabajadores del Estado, Hospital de Alta Especialidad, Puebla, Mexico.<br /><searchLink fieldCode="AU" term="%22Kohl+S%22">Kohl S</searchLink>; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Kuehlewein+L%22">Kuehlewein L</searchLink>; Centre for Ophthalmology, Institute for Ophthalmic Research, Eberhard Karls University Tübingen, Tübingen, Germany.; University Eye Hospital, Centre for Ophthalmology, Eberhard Karls University Tübingen, Tübingen, Germany.<br /><searchLink fieldCode="AU" term="%22Darvish+H%22">Darvish H</searchLink>; Faculty of Medicine, Neuroscience Research Center, Golestan University of Medical Sciences, Gorgan, Iran.<br /><searchLink fieldCode="AU" term="%22Alehabib+E%22">Alehabib E</searchLink>; Student Research Committee, Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.<br /><searchLink fieldCode="AU" term="%22Arenas-Sordo+ML%22">Arenas-Sordo ML</searchLink>; Department of Genetics, National Institute of Rehabilitation Luis Guillermo Ibarra (INR), Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Suri+F%22">Suri F</searchLink>; Ophthalmic Epidemiology Research Center, Research Institute for Ophthalmology and Vision Science, Shahid Beheshti University of Medical Sciences, No. 23, Paidarfard St., Boostan 9 St., Pasdaran Ave., Tehran, 1666673111, Iran. fatemehsuri@gmail.com.<br /><searchLink fieldCode="AU" term="%22Vona+B%22">Vona B</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. barbara.vona@uni-tuebingen.de.; Department of Otolaryngology-Head and Neck Surgery, Tübingen Hearing Research Centre, Eberhard Karls University Tübingen, 72076, Tübingen, Germany. barbara.vona@uni-tuebingen.de.<br /><searchLink fieldCode="AU" term="%22Haaf+T%22">Haaf T</searchLink>; Institute of Human Genetics, Julius Maximilians University Würzburg, 97074, Würzburg, Germany. thomas.haaf@uni-wuerzburg.de. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2022 Apr; Vol. 141 (3-4), pp. 785-803. <i>Date of Electronic Publication: </i>2021 Jun 20. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34148116 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-021-02303-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 785 Titles: – TitleFull: Unraveling the genetic complexities of combined retinal dystrophy and hearing impairment. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Bahena P – PersonEntity: Name: NameFull: Daftarian N – PersonEntity: Name: NameFull: Maroofian R – PersonEntity: Name: NameFull: Linares P – PersonEntity: Name: NameFull: Villalobos D – PersonEntity: Name: NameFull: Mirrahimi M – PersonEntity: Name: NameFull: Rad A – PersonEntity: Name: NameFull: Doll J – PersonEntity: Name: NameFull: Hofrichter MAH – PersonEntity: Name: NameFull: Koparir A – PersonEntity: Name: NameFull: Röder T – PersonEntity: Name: NameFull: Han S – PersonEntity: Name: NameFull: Sabbaghi H – PersonEntity: Name: NameFull: Ahmadieh H – PersonEntity: Name: NameFull: Behboudi H – PersonEntity: Name: NameFull: Villanueva-Mendoza C – PersonEntity: Name: NameFull: Cortés-Gonzalez V – PersonEntity: Name: NameFull: Zamora-Ortiz R – PersonEntity: Name: NameFull: Kohl S – PersonEntity: Name: NameFull: Kuehlewein L – PersonEntity: Name: NameFull: Darvish H – PersonEntity: Name: NameFull: Alehabib E – PersonEntity: Name: NameFull: Arenas-Sordo ML – PersonEntity: Name: NameFull: Suri F – PersonEntity: Name: NameFull: Vona B – PersonEntity: Name: NameFull: Haaf T IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 04 Text: 2022 Apr Type: published Y: 2022 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 141 – Type: issue Value: 3-4 Titles: – TitleFull: Human genetics Type: main |
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