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Brimble, Elise
58  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

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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4

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/..
 
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5

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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6

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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7

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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8

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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9

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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10

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/..
 
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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/..
 
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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/..
 
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