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Koenekoop, Robert K.
172
results:
Search for persons
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Online (172)
Mediatypes
Articles (Online) (81)
Bookchapter (Online) (1)
OpenAccess-fulltext (90)
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1
Loss-of-function variants in UBAP1L cause autosomal recessi..:
Han, Ji Hoon
;
Rodenburg, Kim
;
Hayman, Tamar
...
Genetics in Medicine. 26 (2024) 6 - p. 101106 , 2024
Link:
https://doi.org/10.1016/..
?
2
Comparative analysis of in-silico tools in identifying path..:
Brock, Daniel C
;
Wang, Meng
;
Hussain, Hafiz Muhammad Jafar
...
Human Molecular Genetics. 33 (2024) 11 - p. 945-957 , 2024
Link:
https://doi.org/10.1093/..
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3
Systematic assessment of the contribution of structural var..:
Wen, Shu
;
Wang, Meng
;
Qian, Xinye
...
Human Molecular Genetics. 32 (2023) 12 - p. 2005-2015 , 2023
Link:
https://doi.org/10.1093/..
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4
Probing mechanisms and improving management of glaucoma fol..:
Geoffrion, Dominique
;
Koenekoop, Robert K.
;
Harissi‐Dagher, Mona
Acta Ophthalmologica. 101 (2023) 2 - p. 242-243 , 2023
Link:
https://doi.org/10.1111/..
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5
Identification of autosomal recessive novel genes and retin..:
Millo, Talya
;
Rivera, Antonio
;
Obolensky, Alexey
...
Genetics in Medicine. 24 (2022) 7 - p. 1523-1535 , 2022
Link:
https://doi.org/10.1016/..
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6
QR‐421a RNA therapy in retinitis pigmentosa due to mutation..:
Audo, Isabelle
;
Birch, David G.
;
Thiran Jayasundera, K.
...
Acta Ophthalmologica. 100 (2022) S267 - p. , 2022
Link:
https://doi.org/10.1111/..
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7
PCDH12 variants are associated with basal ganglia anomalies..:
Accogli, Andrea
;
El Kosseifi, Charbel
;
Saint-Martin, Christine
...
European Journal of Medical Genetics. 65 (2022) 2 - p. 104405 , 2022
Link:
https://doi.org/10.1016/..
?
8
Probing mechanisms and improving management of glaucoma fol..:
Geoffrion, Dominique
;
Koenekoop, Robert K.
;
Harissi‐Dagher, Mona
Acta Ophthalmologica. 100 (2022) S274 - p. 3-17 , 2022
Link:
https://doi.org/10.1111/..
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9
Tear Film Cytokine Profile of Patients With the Boston Kera..:
Geoffrion, Dominique
;
Robert, Marie-Claude
;
Di Polo, Adriana
...
Investigative Opthalmology & Visual Science. 62 (2021) 4 - p. 20 , 2021
Link:
https://doi.org/10.1167/..
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10
Characterization of the Spectrum of Ophthalmic Changes in P..:
da Palma, Mariana Matioli
;
Igelman, Austin D.
;
Ku, Cristy
...
Investigative Opthalmology & Visual Science. 62 (2021) 7 - p. 27 , 2021
Link:
https://doi.org/10.1167/..
?
11
LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS—SEVERE V..:
Leroy, Bart P.
;
Birch, David G.
;
Duncan, Jacque L.
...
Retina. 41 (2021) 5 - p. 898-907 , 2021
Link:
https://doi.org/10.1097/..
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12
Properties and Therapeutic Implications of an Enigmatic D47..:
Kiang, Anna-Sophia
;
Kenna, Paul F.
;
Humphries, Marian M.
...
Genes. 11 (2020) 12 - p. 1420 , 2020
Link:
https://doi.org/10.3390/..
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13
Structural Variants Create New Topological-Associated Domai..:
de Bruijn, Suzanne E.
;
Fiorentino, Alessia
;
Ottaviani, Daniele
...
The American Journal of Human Genetics. 107 (2020) 5 - p. 802-814 , 2020
Link:
https://doi.org/10.1016/..
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14
The Relationship Between Cognitive Status and Known Single ..:
Murphy, Caitlin
;
Johnson, Aaron P.
;
Koenekoop, Robert K.
..
Frontiers in Aging Neuroscience. 12 (2020) - p. , 2020
Link:
https://doi.org/10.3389/..
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15
Reliability of Semiautomated Kinetic Perimetry (SKP) and Go..:
Barnes, Claire S.
;
Schuchard, Ronald A.
;
Birch, David G.
...
Translational Vision Science & Technology. 8 (2019) 3 - p. 36 , 2019
Link:
https://doi.org/10.1167/..
1-15