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Kousal, Bohdan
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1

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two ..:

Vergaro, Andrea ; Pankievic, Monika ; Jedlickova, Jana...
International Journal of Molecular Sciences.  25 (2024)  7 - p. 3744 , 2024
Link: https://doi.org/10.3390/..
 
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2

MIR204 n.37C>T variant as a cause of chorioretinal dystroph..:

Jedlickova, Jana ; Vajter, Marie ; Barta, Tomas...
Clinical Genetics.  104 (2023)  4 - p. 418-426 , 2023
Link: https://doi.org/10.1111/..
 
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3

Case report: A rare variant m.4135T>C in the MT-ND1 gene le..:

Rákosníková, Tereza ; Kelifová, Silvie ; Štufková, Hana...
Frontiers in Genetics.  14 (2023)  - p. , 2023
Link: https://doi.org/10.3389/..
 
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4

A Randomized Controlled Trial of OPT-302, a VEGF-C/D Inhibi..:

Jackson, Timothy L. ; Slakter, Jason ; Buyse, Marc...
Ophthalmology.  130 (2023)  6 - p. 588-597 , 2023
Link: https://doi.org/10.1016/..
 
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5

DNAJC30 defect: a frequent cause of recessive Leber heredit..:

Stenton, Sarah L. ; Tesarova, Marketa ; Sheremet, Natalia L....
Brain.  145 (2022)  5 - p. 1624-1631 , 2022
Link: https://doi.org/10.1093/..
 
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6

Leber congenital amaurosis and early onset severe retinal d..:

Vajter, Marie ; Kousal, Bohdan ; Moravikova, Jana...
Acta Ophthalmologica.  100 (2022)  S275 - p. , 2022
Link: https://doi.org/10.1111/..
 
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7

Multi-omics approach dissects cis-regulatory mechanisms und..:

Van de Sompele, Stijn ; Small, Kent W. ; Cicekdal, Munevver Burcu...
The American Journal of Human Genetics.  109 (2022)  11 - p. 2029-2048 , 2022
Link: https://doi.org/10.1016/..
 
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8

Modern diagnostic and therapeutic approaches in familial ma..:

Nekolova, Jana ; Stepanov, Alexandr ; Kousal, Bohdan..
Biomedical Papers.  166 (2022)  4 - p. 418-427 , 2022
Link: https://doi.org/10.5507/..
 
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9

Impact of Newborn Screening and Early Dietary Management on..:

Rücklová, Kristina ; Hrubá, Eva ; Pavlíková, Markéta...
Nutrients.  13 (2021)  9 - p. 2925 , 2021
Link: https://doi.org/10.3390/..
 
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10

Clinical and Genetic Study of X-Linked Juvenile Retinoschis..:

Kousal, Bohdan ; Hlavata, Lucia ; Vlaskova, Hana...
Genes.  12 (2021)  11 - p. 1816 , 2021
Link: https://doi.org/10.3390/..
 
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11

ALG3-CDG: a patient with novel variants and review of the g..:

Farolfi, Martina ; Cechova, Anna ; Ondruskova, Nina...
BMC Ophthalmology.  21 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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12

Pigmentary retinopathy can indicate the presence of pathoge..:

Kousal, Bohdan ; Majer, Filip ; Vlaskova, Hana...
Acta Ophthalmologica.  99 (2020)  1 - p. 61-68 , 2020
Link: https://doi.org/10.1111/..
 
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13

Alu‐mediatedXq24deletion encompassingCUL4B,LAMP2,ATP1B4,TME..:

Majer, Filip ; Kousal, Bohdan ; Dusek, Petr...
American Journal of Medical Genetics Part A.  182 (2019)  1 - p. 219-223 , 2019
Link: https://doi.org/10.1002/..
 
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14

Peripapillary microcirculation in Leber hereditary optic ne..:

Kousal, Bohdan ; Kolarova, Hana ; Meliska, Martin...
Acta Ophthalmologica.  97 (2018)  1 - p. , 2018
Link: https://doi.org/10.1111/..
 
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15

SD-OCT imaging as a valuable tool to support molecular gene..:

Kremlikova Pourova, Radka ; Paderova, Jana ; Copikova, Jana...
Journal of American Association for Pediatric Ophthalmology and Strabismus.  22 (2018)  4 - p. 312-314.e3 , 2018
Link: https://doi.org/10.1016/..
 
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