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1 . Academic Journal
Tissue-specific TCF4 triplet repeat instability revealed by optical genome mapping
저자
by
Zarouchlioti, Christina
;
Efthymiou, Stephanie
;
Facchini, Stefano
;
Dominik, Natalia
;
Bhattacharyya, Nihar
, et al.
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eBioMedicine
October 2024 108
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7 . Academic Journal
Leber hereditary optic neuropathy in Czechia and Slovakia: Quality of life and costs from patient perspective
저자
by
Bušányová, Beáta
;
Vajter, Marie
;
Kelifová, Silvie
;
Lišková, Petra
;
Miková, Hedviga
, et al.
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Heliyon
15 June 2024 10(11)
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7 . Academic Journal
Lisch Epithelial Corneal Dystrophy Is Caused by Heterozygous Loss-of-Function Variants in MCOLN1
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by
Patterson, Karynne
;
Chong, Jessica X.
;
Chung, Doug D.
;
Lisch, Walter
;
Karp, Carol L.
, et al.
소스
In
American Journal of Ophthalmology
February 2024 258:183-195
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7 . Academic Journal
Targeted sequencing and in vitro splice assays shed light on ABCA4-associated retinopathies missing heritability
저자
by
Corradi, Zelia
;
Khan, Mubeen
;
Hitti-Malin, Rebekkah
;
Mishra, Ketan
;
Whelan, Laura
, et al.
소스
In
Human Genetics and Genomics Advances
12 October 2023 4(4)
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7 . Academic Journal
Light-responsive microRNA molecules in human retinal organoids are differentially regulated by distinct wavelengths of light
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by
Celiker, Canan
;
Weissova, Kamila
;
Cerna, Katerina Amruz
;
Oppelt, Jan
;
Dorgau, Birthe
, et al.
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iScience
21 July 2023 26(7)
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
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Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
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by
Reurink, Janine
;
Weisschuh, Nicole
;
Garanto, Alejandro
;
Dockery, Adrian
;
van den Born, L. Ingeborgh
, et al.
소스
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Human Genetics and Genomics Advances
January 2023
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7 . Academic Journal
Diagnosis and classification of optic neuritis
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by
Petzold, Axel
;
Fraser, Clare L
;
Abegg, Mathias
;
Alroughani, Raed
;
Alshowaeir, Daniah
, et al.
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In
The Lancet Neurology
December 2022 21(12):1120-1134
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7 . Academic Journal
Insight into the distribution of amino groups along the chain of chemically deacetylated hyaluronan
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by
Sedláček, Jakub
;
Hermannová, Martina
;
Mrázek, Jiří
;
Buffa, Radovan
;
Lišková, Petra
, et al.
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Carbohydrate Polymers
1 December 2019 225
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7 . Academic Journal
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease.
저자
by
Brichova, Michaela
;
Klimova, Aneta
;
Heissigerova, Jarmila
;
Svozilkova, Petra
;
Vaneckova, Manuela
, et al.
소스
Genes
. Jun2024, Vol. 15 Issue 6, p799. 14p.
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