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Brimble, Elise
19
results:
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1
Comprehensive phenotypes of patients with SYNGAP1‐related d..:
Wiltrout, Kimberly
;
Brimble, Elise
;
Poduri, Annapurna
Epilepsia. 65 (2024) 5 - p. 1428-1438 , 2024
Link:
https://doi.org/10.1111/..
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2
Validation and clinical discovery demonstration of breast c..:
Nottke, Amanda
;
Alan, Sophia
;
Brimble, Elise
...
JAMIA Open. 7 (2024) 2 - p. , 2024
Link:
https://doi.org/10.1093/..
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3
Characterizing a rare neurogenetic disease, SLC13A5 citrate..:
Spelbrink, Emily M.
;
Brown, Tanya L.
;
Brimble, Elise
...
Frontiers in Genetics. 14 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
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4
Disease Impact and Burden in Patients with SCN2A-Related De..:
Dalby, Kelley
;
Snyder, Ted
;
Matthews, Lillian
...
Neurology. 100 (2023) 17_supplement_2 - p. , 2023
Link:
https://doi.org/10.1212/..
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5
Delineating clinical and developmental outcomes in STXBP1-r..:
Xian, Julie
;
Thalwitzer, Kim Marie
;
McKee, Jillian
...
Brain. 146 (2023) 12 - p. 5182-5197 , 2023
Link:
https://doi.org/10.1093/..
?
6
Expanding genotype–phenotype correlations in FOXG1 syndrome..:
Brimble, Elise
;
Reyes, Kathryn G.
;
Kuhathaas, Kopika
...
Orphanet Journal of Rare Diseases. 18 (2023) 1 - p. , 2023
Link:
https://doi.org/10.1186/..
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7
The phenotypic and genetic spectrum of patients with hetero..:
Franken, Gijs A. C.
;
Müller, Dominik
;
Mignot, Cyril
...
Human Mutation. 42 (2021) 4 - p. 473-486 , 2021
Link:
https://doi.org/10.1002/..
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8
Inhibition of histone deacetylation with vorinostat does no..:
Carlisle, Rachel E.
;
Farooqi, Salwa
;
Zhang, Ming Chan
...
PLOS ONE. 16 (2021) 11 - p. e0260519 , 2021
Link:
https://doi.org/10.1371/..
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9
Genetic and phenotypic spectrum associated with IFIH1 gain‐..:
Rice, Gillian I.
;
Park, Sehoon
;
Gavazzi, Francesco
...
Human Mutation. 41 (2020) 4 - p. 837-849 , 2020
Link:
https://doi.org/10.1002/..
?
10
Expanding the molecular and clinical phenotypes of FUT8‐CDG:
Ng, Bobby G.
;
Dastsooz, Hassan
;
Silawi, Mohammad
...
Journal of Inherited Metabolic Disease. 43 (2020) 4 - p. 871-879 , 2020
Link:
https://doi.org/10.1002/..
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11
De Novo Missense Substitutions in the Gene Encoding CDK8, a..:
Calpena, Eduardo
;
Hervieu, Alexia
;
Kaserer, Teresa
...
The American Journal of Human Genetics. 104 (2019) 4 - p. 709-720 , 2019
Link:
https://doi.org/10.1016/..
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12
Use of electronic medical record templates improves quality..:
Santoro, Jonathan D
;
Sandoval Karamian, Amanda G
;
Ruzhnikov, Maura
...
Health Information Management Journal. 50 (2018) 1-2 - p. 47-54 , 2018
Link:
https://doi.org/10.1177/..
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13
A New Approach to Rare Diseases of Children: The Undiagnose..:
Reuter, Chloe M.
;
Brimble, Elise
;
DeFilippo, Colette
...
The Journal of Pediatrics. 196 (2018) - p. 291-297.e2 , 2018
Link:
https://doi.org/10.1016/..
?
14
Human induced pluripotent stem cell derived neurons as a mo..:
Khattak, Shahryar
;
Brimble, Elise
;
Zhang, Wenbo
...
Molecular Brain. 8 (2015) 1 - p. , 2015
Link:
https://doi.org/10.1186/..
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15
4-Phenylbutyrate Inhibits Tunicamycin-Induced Acute Kidney ..:
Carlisle, Rachel E.
;
Brimble, Elise
;
Werner, Kaitlyn E.
...
PLoS ONE. 9 (2014) 1 - p. e84663 , 2014
Link:
https://doi.org/10.1371/..
1-15