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Bertelsen, Mette
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1

Prevalence Screening for Familial Optic Disc Drusen: A Cros..:

Steensberg, Alvilda H. ; Malmqvist, Lasse ; Bertelsen, Mette..
Neuro-Ophthalmology.  , 2024
Link: https://doi.org/10.1080/..
 
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2

Phenotypic characteristics of Danish patients with achromat..:

Andersen, Mette K. G. ; Bertelsen, Mette ; Gundestrup, Svend..
Acta Ophthalmologica.  , 2024
Link: https://doi.org/10.1111/..
 
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3

Genetic and Clinical Characterization of Danish Achromatops..:

Andersen, Mette Kjøbæk Gundestrup ; Bertelsen, Mette ; Grønskov, Karen..
Genes.  14 (2023)  3 - p. 690 , 2023
Link: https://doi.org/10.3390/..
 
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4

National clinical Genetic Networks - GENets - Establishment..:

Lildballe, Dorte L. ; Frederiksen, Anja Lisbeth ; Schönewolf-Greulich, Bitten...
European Journal of Medical Genetics.  66 (2023)  12 - p. 104872 , 2023
Link: https://doi.org/10.1016/..
 
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5

Genetic Modifiers of Non-Penetrance and RNA Expression Leve..:

Lisbjerg, Kristian ; Grønskov, Karen ; Bertelsen, Mette..
Genes.  14 (2023)  2 - p. 435 , 2023
Link: https://doi.org/10.3390/..
 
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6

Synchronous detection of pancreatic adenocarcinoma and para..:

Aaquist, Trine ; Dembic, Maja ; Thomassen, Mads...
Pathology - Research and Practice.  226 (2021)  - p. 153590 , 2021
Link: https://doi.org/10.1016/..
 
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7

Long-Read Sequencing to Unravel Complex Structural Variants..:

Ascari, Giulia ; Rendtorff, Nanna D. ; De Bruyne, Marieke...
Frontiers in Cell and Developmental Biology.  9 (2021)  - p. , 2021
Link: https://doi.org/10.3389/..
 
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8

A Missense Mutation in RAB28 in a Family with Cone-Rod Dyst..:

Jespersgaard, Cathrine ; Hey, Amalie Brunbjerg ; Ilginis, Tomas...
Investigative Opthalmology & Visual Science.  61 (2020)  2 - p. 29 , 2020
Link: https://doi.org/10.1167/..
 
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9

Bi-Allelic Pathogenic Variations in MERTK Including Deletio..:

Jespersgaard, Cathrine ; Bertelsen, Mette ; Arif, Farah...
Genes.  11 (2020)  12 - p. 1517 , 2020
Link: https://doi.org/10.3390/..
 
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10

Retinal Structure inRPE65-Associated Retinal Dystrophy:

Kumaran, Neruban ; Georgiou, Michalis ; Bainbridge, James W. B....
Investigative Opthalmology & Visual Science.  61 (2020)  4 - p. 47 , 2020
Link: https://doi.org/10.1167/..
 
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11

Molecular genetic analysis using targeted NGS analysis of 6..:

Jespersgaard, Cathrine ; Fang, Mingyan ; Bertelsen, Mette...
Scientific Reports.  9 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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12

The Natural History of Inherited Retinal Dystrophy Due to B..:

Chung, Daniel C. ; Bertelsen, Mette ; Lorenz, Birgit...
American Journal of Ophthalmology.  199 (2019)  - p. 58-70 , 2019
Link: https://doi.org/10.1016/..
 
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13

A family with bilateral symmetrical sectoral pigmentary ret..:

Kessel, Line ; Bertelsen, Mette ; Grønskov, Karen.
Acta Ophthalmologica.  97 (2018)  4 - p. , 2018
Link: https://doi.org/10.1111/..
 
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14

Clinical Characterization of 66 Patients With Congenital Re..:

Valkenburg, Dyon ; van Cauwenbergh, Caroline ; Lorenz, Birgit...
Investigative Opthalmology & Visual Science.  59 (2018)  11 - p. 4384 , 2018
Link: https://doi.org/10.1167/..
 
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15

Long-term trajectories of positive and negative symptoms in..:

Austin, Stephen F. ; Mors, Ole ; Budtz-Jørgensen, Esben...
Schizophrenia Research.  168 (2015)  1-2 - p. 84-91 , 2015
Link: https://doi.org/10.1016/..
 
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