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Procopio, Rebecca
39
results:
Search for persons
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Format
Online (39)
Mediatypes
Articles (Online) (17)
OpenAccess-fulltext (22)
Sorted by: Relevance
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?
1
P466: Neurodevelopmental diagnoses in oculocutaneous albini..:
Procopio, Rebecca
;
Schneider, Adele
;
Xi, Amy
Genetics in Medicine Open. 2 (2024) - p. 101360 , 2024
Link:
https://doi.org/10.1016/..
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2
Retinal Dystrophies Associated With Peripherin-2: Genetic S..:
Heath Jeffery, Rachael C.
;
Thompson, Jennifer A.
;
Lo, Johnny
...
Investigative Ophthalmology & Visual Science. 65 (2024) 5 - p. 22 , 2024
Link:
https://doi.org/10.1167/..
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3
Hypomorphic variants in inherited retinal and ocular diseas..:
Thuma, Tobin B.T.
;
Procopio, Rebecca A.
;
Jimenez, Hiram J.
..
Survey of Ophthalmology. 69 (2024) 3 - p. 337-348 , 2024
Link:
https://doi.org/10.1016/..
?
4
A Comprehensive Report of Intrinsically Disordered Regions ..:
Lee, Karen E.
;
Pulido, Jose S.
;
da Palma, Mariana M.
...
Genes. 14 (2023) 8 - p. 1601 , 2023
Link:
https://doi.org/10.3390/..
?
5
P272: Uniparental disomy of chromosome 19 in an individual ..:
Procopio, Rebecca
;
Schneider, Adele
Genetics in Medicine Open. 1 (2023) 1 - p. 100300 , 2023
Link:
https://doi.org/10.1016/..
?
6
LHX2 haploinsufficiency causes a variable neurodevelopmenta..:
Schmid, Cosima M.
;
Gregor, Anne
;
Costain, Gregory
...
Genetics in Medicine. 25 (2023) 7 - p. 100839 , 2023
Link:
https://doi.org/10.1016/..
?
7
Instances of ocular findings in transgender patients underg..:
Nieves-Ríos, Christian
;
Pulido, Jose S.
;
Thornton, Sarah
...
American Journal of Ophthalmology Case Reports. 32 (2023) - p. 101965 , 2023
Link:
https://doi.org/10.1016/..
?
8
Initial Investigations of Intrinsically Disordered Regions ..:
Lee, Karen E.
;
Procopio, Rebecca
;
Pulido, Jose S.
.
International Journal of Molecular Sciences. 24 (2023) 2 - p. 1060 , 2023
Link:
https://doi.org/10.3390/..
?
9
Comparing Gene Panels for Non-Retinal Indications: A System..:
Procopio, Rebecca
;
Pulido, Jose S.
;
Gunton, Kammi B.
...
Genes. 14 (2023) 3 - p. 738 , 2023
Link:
https://doi.org/10.3390/..
?
10
eP218: A novel FGFR2 variant in a family with a spectrum of..:
Procopio, Rebecca
;
Semina, Elena
;
Reis, Linda
...
Genetics in Medicine. 24 (2022) 3 - p. S136 , 2022
Link:
https://doi.org/10.1016/..
?
11
Signal Peptide Variants in Inherited Retinal Diseases: A Mu..:
Jimenez, Hiram J.
;
Procopio, Rebecca A.
;
Thuma, Tobin B. T.
...
International Journal of Molecular Sciences. 23 (2022) 21 - p. 13361 , 2022
Link:
https://doi.org/10.3390/..
?
12
Loss of UHT milk quality: changes in compositional and phys..:
Santos, Amanda Ribeiro dos
;
Penna, Cláudia Freire de Andrade Morais
;
Vasconcelos, Cecília Melo
...
Research, Society and Development. 11 (2022) 11 - p. e464111133577 , 2022
Link:
https://doi.org/10.33448..
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13
Comparing Gene Panels for Non-Retinal Indications: A System..:
Procopio, Rebecca
;
Pulido, Jose S
;
Gunton, Kammi B
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10047970/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
14
Initial Investigations of Intrinsically Disordered Regions ..:
Lee, Karen E
;
Procopio, Rebecca
;
Pulido, Jose S
.
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9861917/. , 2023
Link:
http://www.ncbi.nlm.nih...
?
15
IRD panels-caveat emptor-truly know your IRD panel:
Pulido, Jose S
;
Procopio, Rebecca
;
Davila, Hiram Jimenez
...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8702468/. , 2022
Link:
http://www.ncbi.nlm.nih...
1-15