المؤلفون: Fakin, Ana, Šuštar, Maja, Brecelj, Jelka, Bonnet, Crystel, Petit, Christine, Zupan, Andrej, Glavač, Damjan, Jarc-Vidmar, Martina, Battelino, Saba, Hawlina, Marko

المصدر: Genes, vol. 10, no. 12, art 956, 2019. ; ISSN: 2073-4425

مصطلحات موضوعية: USH2A-retinopathy, double hyperautofluorescent rings, electrophysiology, USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, cone-rod dystrophy, USH2A-retinopatija, dvojni hipevtrofluorescenčni obroči, elektrofiziologija, info:eu-repo/classification/udc/617.7

وصف الملف: application/pdf; text/url

العلاقة: info:eu-repo/grantAgreement/ARRS//P3-0333; info:eu-repo/grantAgreement/EC/FP7/242013; https://repozitorij.uni-lj.si/IzpisGradiva.php?id=133108Test; https://repozitorij.uni-lj.si/Dokument.php?id=150910&dnTest=; https://repozitorij.uni-lj.si/Dokument.php?id=150909&dnTest=; https://plus.si.cobiss.net/opac7/bib/34598361?lang=slTest

الإتاحة: https://doi.org/10.3390/genes10120956Test
https://repozitorij.uni-lj.si/IzpisGradiva.php?id=133108Test
https://repozitorij.uni-lj.si/Dokument.php?id=150910&dnTest=
https://repozitorij.uni-lj.si/Dokument.php?id=150909&dnTest=
https://plus.si.cobiss.net/opac7/bib/34598361?lang=slTest

المؤلفون: Fakin, Ana, Šuštar, Maja, Brecelj, Jelka, Bonnet, Crystel, Petit, Christine, Zupan, Andrej, Glavač, Damjan, Jarc-Vidmar, Martina, Battelino, Saba, Hawlina, Marko

المساهمون: University of Ljubljana, Génétique et Physiologie de l'Audition, Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Institut de la Vision, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut de l'Audition Paris (IDA), Institut Pasteur Paris (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France - Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), University Medical Centre Ljubljana Ljubljana, Slovenia (UMCL), This research was funded by Slovenian research agency (ARRS P3-0333) and Treatrush (HEALTHF2-2010-242013), European Collaborative projec, European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010)

المصدر: ISSN: 2073-4425 ; Genes ; https://hal.sorbonne-universite.fr/hal-02408154Test ; Genes, 2019, 10 (12), pp.956. ⟨10.3390/genes10120956⟩.

مصطلحات موضوعية: USH2A, cone-rod dystrophy, double hyperautofluorescent rings, electrophysiology, fundus autofluorescence, retinitis pigmentosa, usher syndrome, [SDV]Life Sciences [q-bio], [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31766479; info:eu-repo/grantAgreement/EC/FP7/242013/EU/Fighting blindness of Usher syndrome: diagnosis, pathogenesis and retinal treatment (TreatRetUsher)/TREATRUSH; hal-02408154; https://hal.sorbonne-universite.fr/hal-02408154Test; https://hal.sorbonne-universite.fr/hal-02408154/documentTest; https://hal.sorbonne-universite.fr/hal-02408154/file/genes-10-00956.pdfTest; PUBMED: 31766479

الإتاحة: https://doi.org/10.3390/genes10120956Test
https://hal.sorbonne-universite.fr/hal-02408154Test
https://hal.sorbonne-universite.fr/hal-02408154/documentTest
https://hal.sorbonne-universite.fr/hal-02408154/file/genes-10-00956.pdfTest

المؤلفون: Ana Fakin, Maja Šuštar, Jelka Brecelj, Crystel Bonnet, Christine Petit, Andrej Zupan, Damjan Glavač, Martina Jarc-Vidmar, Saba Battelino, Marko Hawlina

المصدر: Genes; Volume 10; Issue 12; Pages: 956

مصطلحات موضوعية: USH2A, usher syndrome, retinitis pigmentosa, fundus autofluorescence, double hyperautofluorescent rings, electrophysiology, cone-rod dystrophy

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes10120956Test

الإتاحة: https://doi.org/10.3390/genes10120956Test

المؤلفون: Crystel Bonnet, Martina Jarc-Vidmar, Jelka Brecelj, Andrej Zupan, Saba Battelino, Christine Petit, Damjan Glavač, Ana Fakin, Marko Hawlina, Maja Sustar

المساهمون: University of Ljubljana, Génétique et Physiologie de l'Audition, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), ED 515 - Complexité du vivant, Sorbonne Université (SU), Institut de la Vision, Centre National de la Recherche Scientifique (CNRS)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de l'Audition [Paris] (IDA), Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), Chaire Génétique et physiologie cellulaire, Collège de France (CdF (institution)), University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), This research was funded by Slovenian research agency (ARRS P3-0333) and Treatrush (HEALTHF2-2010-242013), European Collaborative projec, European Project: 242013,EC:FP7:HEALTH,FP7-HEALTH-2009-single-stage,TREATRUSH(2010), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Collège de France - Chaire Génétique et physiologie cellulaire

المصدر: Genes
Volume 10
Issue 12
Genes, MDPI, 2019, 10 (12), pp.956. ⟨10.3390/genes10120956⟩
Genes, vol. 10, no. 12, 956, 2019.
Genes, 2019, 10 (12), pp.956. ⟨10.3390/genes10120956⟩
Genes, Vol 10, Iss 12, p 956 (2019)

مصطلحات موضوعية: Male, 0301 basic medicine, Retinal degeneration, Visual acuity, genetic structures, USH2A-retinopatija, Usher syndrome, [SDV]Life Sciences [q-bio], Eye, udc:617.7, 0302 clinical medicine, Missense mutation, cone-rod dystrophy, usher syndrome, Genetics (clinical), Extracellular Matrix Proteins, fundus autofluorescence, Optical Imaging, dvojni hipevtrofluorescenčni obroči, elektrofiziologija, USH2A-retinopathy, Middle Aged, Phenotype, Female, medicine.symptom, Usher Syndromes, Retinopathy, Adult, medicine.medical_specialty, lcsh:QH426-470, Hearing loss, Article, double hyperautofluorescent rings, 03 medical and health sciences, USH2A, Ophthalmology, retinitis pigmentosa, Retinitis pigmentosa, Electroretinography, Genetics, medicine, otorhinolaryngologic diseases, Humans, business.industry, Dystrophy, medicine.disease, electrophysiology, lcsh:Genetics, 030104 developmental biology, Mutation, 030221 ophthalmology & optometry, sense organs, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

وصف الملف: application/pdf; text/url

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0701e1904f8daed4ae06fd603da50cafTest