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1
von Peggy Reuter ; Jennifer Schroeder ; Marc Sturm ; et al.
Molecular Medicine, Vol 32, Iss 1 (2026)
Schlagworte: CNGA1; Variants of uncertain significance; Functional evaluation; Retinitis pigmentosa; Inherited retinal disease; Therapeutics. Pharmacology; RM1-950; Biochemistry; QD415-436
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2
von Lidia Fernández-Caballero ; Fiona Blanco-Kelly ; Saoud Tahsin Swafiri ; et al.
Scientific Reports, Vol 15, Iss 1, Pp 1-13 (2025)
Schlagworte: Medicine; Science
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3
von Mukhtar Ullah ; Atta Ur Rehman ; Mathieu Quinodoz ; et al.
npj Genomic Medicine, Vol 10, Iss 1, Pp 1-11 (2025)
Schlagworte: Medicine; Genetics; QH426-470
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4
von Lisa M. George ; Mathur Ranjana ; Mathieu Quinodoz ; et al.
American Journal of Ophthalmology Case Reports, Vol 39, Iss , Pp 102408- (2025)
Schlagworte: Early onset macular drusen; AMD; Drusen; Complement factor H; CFH; IRD; Ophthalmology; RE1-994
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5
von Mathieu Quinodoz ; Sonja Rutz ; Virginie Peter ; et al.
The EMBO Journal, Vol 44, Iss 2, Pp 413-436 (2024)
Schlagworte: Volume-regulated Anion Channels; Disease-causing Variants; Channel Activation; Biology (General); QH301-705.5; Microbiology; QR1-502
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6
von Andrea Zanetti ; Gwendal Dujardin ; Lucas Fares-Taie ; et al.
Nature Communications, Vol 15, Iss 1, Pp 1-20 (2024)
Schlagworte: Science
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7
von Stéphanie Bibert ; Mathieu Quinodoz ; Sylvain Perriot ; et al.
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Schlagworte: Science
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8
von Giovanni Marco Conti ; Francesca Cancellieri ; Mathieu Quinodoz ; et al.
Case Reports in Ophthalmology, Vol 15, Iss 1, Pp 230-237 (2024)
Schlagworte: gnb1; rod-cone dystrophy; retinitis pigmentosa; inherited retinal disease; case report; Ophthalmology; RE1-994
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9
von Oleksandr Zabiegalov ; Adeline Berger ; Dhryata Kamdar ; et al.
Cells, Vol 14, Iss 4, p 252 (2025)
Schlagworte: retinal organoids; reporter line; stem cells; retinal progenitor cells; Rax gene; cell tracing; Cytology; QH573-671
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10
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype
von Neringa Jurkute ; Francesca Cancellieri ; Lisa Pohl ; et al.
npj Genomic Medicine, Vol 7, Iss 1, Pp 1-12 (2022)
Schlagworte: Medicine; Genetics; QH426-470
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11
von Barboni, Mirella ; Jávorszky, Eszter ; Quinodoz, Mathieu ; et al.
Documenta Ophthalmologica: The Journal of Clinical Electrophysiology and Vision - The Official Journal of the International Society for Clinical Electrophysiology and Vision. :1-12
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12
von Quinodoz, Mathieu ; Rodenburg, Kim ; Cvackova, Zuzana ; et al.
Nature Genetics. 58(1):169-179
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13
von Atta Ur Rehman ; Neda Sepahi ; Nicola Bedoni ; et al.
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Schlagworte: Medicine; Science
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14
von Béatrice Bocquet ; Caroline Borday ; Nejla Erkilic ; et al.
JCI Insight, Vol 8, Iss 21 (2023)
Schlagworte: Genetics; Ophthalmology; Medicine
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15
Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
von Riccardo Sangermano ; Iris Deitch ; Virginie G. Peter ; et al.
npj Genomic Medicine, Vol 6, Iss 1, Pp 1-10 (2021)
Schlagworte: Medicine; Genetics; QH426-470
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16
von Mathieu Quinodoz ; Virginie G. Peter ; Nicola Bedoni ; et al.
Nature Communications, Vol 12, Iss 1, Pp 1-7 (2021)
Schlagworte: Science
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17
von Guillaume Butler-Laporte ; Gundula Povysil ; Jack A Kosmicki ; et al.
PLoS Genetics, Vol 18, Iss 11, p e1010367 (2022)
Schlagworte: Genetics; QH426-470
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18
von Ariyama, Hirotaka ; Tsukamura, Atsushi ; Miyatake, Satoko ; et al.
In iScience 19 June 2026 29(6)
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19
von Evangelia S. Panagiotou ; Thomas Papathomas ; Konstantinos Nikopoulos ; et al.
Ophthalmology and Therapy, Vol 9, Iss 3, Pp 677-684 (2020)
Schlagworte: Full-thickness macular hole; Pars plana vitrectomy; Retinitis pigmentosa; Usher syndrome; Ophthalmology; RE1-994
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20
von Filipa Bastos ; Mathieu Quinodoz ; Marie-Claude Addor ; et al.
BMC Neurology, Vol 20, Iss 1, Pp 1-6 (2020)
Schlagworte: Neurodegeneration; UBTF; EEG; Neurology. Diseases of the nervous system; RC346-429
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21
von Moye, Abigail R. ; McCafferty, Caitlyn L. ; Lin, Siying ; et al.
In The American Journal of Human Genetics 5 March 2026 113(3):582-599
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22
von Karali, Marianthi ; García-García, Gema ; Kaminska, Karolina ; et al.
European Journal of Human Genetics. 33(6):727-737
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23
von Konstantinos Nikopoulos ; Katarina Cisarova ; Mathieu Quinodoz ; et al.
Nature Communications, Vol 10, Iss 1, Pp 1-7 (2019)
Schlagworte: Science
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24
von André Brás Gonçalves ; Sarah Kirstine Hasselbalch ; Beinta Biskopstø Joensen ; et al.
eLife, Vol 10 (2021)
Schlagworte: cilia; centrosome; CEP78; CEP350; CP110; ubiquitin; Medicine; Science; Biology (General); QH301-705.5
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25
von Stéphanie Bibert ; Nicolas Guex ; Joao Lourenco ; et al.
Frontiers in Immunology, Vol 12 (2021)
Schlagworte: COVID-19; SARS-CoV-2; influenza; whole blood transcriptome; RNA-sequencing; immune profiling; Immunologic diseases. Allergy; RC581-607
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