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Farhat, Nicole
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1

Consistently High Agreement Between Independent Raters of N..:

Farhat, Nicole ; Bailey, Laurie ; Friedmann, Katherine...
Pediatric Neurology.  127 (2022)  - p. 32-38 , 2022
Link: https://doi.org/10.1016/..
 
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2

Hepatocellular carcinoma as a complication of Niemann‐Pick ..:

Rodriguez‐Gil, Jorge L. ; Bianconi, Simona E. ; Farhat, Nicole...
American Journal of Medical Genetics Part A.  185 (2021)  10 - p. 3111-3117 , 2021
Link: https://doi.org/10.1002/..
 
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3

International consensus on clinical severity scale use in e..:

Evans, William ; Patterson, Marc ; Platt, Frances...
Orphanet Journal of Rare Diseases.  16 (2021)  1 - p. , 2021
Link: https://doi.org/10.1186/..
 
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4

Long-Term Neuropsychological Outcomes from an Open-Label Ph..:

Farmer, Cristan A. ; Thurm, Audrey ; Farhat, Nicole...
CNS Drugs.  33 (2019)  7 - p. 677-683 , 2019
Link: https://doi.org/10.1007/..
 
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5

NMR analysis reveals significant differences in the plasma ..:

Probert, Fay ; Ruiz-Rodado, Victor ; Vruchte, Danielle te...
Scientific Reports.  7 (2017)  1 - p. , 2017
Link: https://doi.org/10.1038/..
 
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6

Gait, Balance, and Coordination Impairments in Niemann Pick..:

Sansare, Ashwini ; Zampieri, Cris ; Alter, Katharine...
Journal of Child Neurology.  33 (2017)  1 - p. 114-124 , 2017
Link: https://doi.org/10.1177/..
 
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7

Association of NPC1 variant p.P237S with a pathogenic splic..:

Salman, Alexander ; Cougnoux, Antony ; Farhat, Nicole..
American Journal of Medical Genetics Part A.  173 (2017)  4 - p. 1038-1040 , 2017
Link: https://doi.org/10.1002/..
 
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8

Swallowing characterization of adult-onset Niemann-Pick, ty..:

Solomon, Beth I. ; Muñoz, Andrea M. ; Sinaii, Ninet...
Orphanet Journal of Rare Diseases.  19 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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9

Sterol O-Acyltransferase 1 (SOAT1): A Genetic Modifier of N..:

Farhat, Nicole Y. ; Alexander, Derek ; McKee, Kyli...
International Journal of Molecular Sciences.  25 (2024)  8 - p. 4217 , 2024
Link: https://doi.org/10.3390/..
 
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10

Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase..:

Cawley, Niamh X. ; Giddens, Spencer ; Farhat, Nicole M....
Molecular Genetics and Metabolism.  140 (2023)  3 - p. 107656 , 2023
Link: https://doi.org/10.1016/..
 
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11

Identification of cerebral spinal fluid protein biomarkers ..:

Campbell, Kiersten ; Cawley, Niamh X. ; Luke, Rachel...
Biomarker Research.  11 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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12

Neurofilament light chain in cerebrospinal fluid as a novel..:

Agrawal, Neena ; Farhat, Nicole Y. ; Sinaii, Ninet...
Genetics in Medicine.  25 (2023)  3 - p. 100349 , 2023
Link: https://doi.org/10.1016/..
 
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13

Defective iron homeostasis and hematological abnormalities ..:

Chen, Oscar C W ; Siebel, Stephan ; Colaco, Alexandria...
Wellcome Open Research.  7 (2023)  - p. 267 , 2023
Link: https://doi.org/10.12688..
 
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14

Species-specific differences in NPC1 protein trafficking go..:

Schultz, Mark L. ; Schache, Kylie J. ; Azaria, Ruth D....
JCI Insight.  7 (2022)  23 - p. , 2022
Link: https://doi.org/10.1172/..
 
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15

Defective iron homeostasis and hematological abnormalities ..:

Chen, Oscar C W ; Siebel, Stephan ; Colaco, Alexandria...
Wellcome Open Research.  7 (2022)  - p. 267 , 2022
Link: https://doi.org/10.12688..
 
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