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Northrup, Hope
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1

Burden re-analysis of neurodevelopmental disorder cohorts f..:

Smal, Noor ; Majdoub, Fatma ; Janssens, Katrien...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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2

805 Morphometric analysis of spina bifida (SB) to associate..:

Mann, Lovepreet ; Pandiri, Shreya ; Garnett, Jeannine...
American Journal of Obstetrics and Gynecology.  230 (2024)  1 - p. S428-S429 , 2024
Link: https://doi.org/10.1016/..
 
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3

Common epilepsy variants from the general population are no..:

Richard, Melissa A. ; Lupo, Philip J. ; Ehli, Erik A....
American Journal of Medical Genetics Part A.  194 (2024)  6 - p. , 2024
Link: https://doi.org/10.1002/..
 
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4

Drug Resistant Epilepsy in Tuberous Sclerosis Complex is As..:

Farach, Laura S. ; Richard, Melissa A. ; Wulsin, Aynara C....
Pediatric Neurology.  , 2024
Link: https://doi.org/10.1016/..
 
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5

P439: Yet another neurodevelopmental single gene disorder: ..:

Richardson, Kate ; Northrup, Hope
Genetics in Medicine Open.  2 (2024)  - p. 101333 , 2024
Link: https://doi.org/10.1016/..
 
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6

ARMC5 controls the degradation of most Pol II subunits, and..:

Luo, Hongyu ; Lao, Linjiang ; Au, Kit Sing...
Genome Biology.  25 (2024)  1 - p. , 2024
Link: https://doi.org/10.1186/..
 
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7

Pegvaliase for the treatment of phenylketonuria: Final resu..:

Harding, Cary O. ; Longo, Nicola ; Northrup, Hope...
Molecular Genetics and Metabolism Reports.  39 (2024)  - p. 101084 , 2024
Link: https://doi.org/10.1016/..
 
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8

Management considerations for adults with phenylketonuria a..:

Bjoraker, Kendra J. ; Hollander, Suzanne ; Holmes, Brittany M....
Future Rare Diseases.  4 (2024)  1 - p. , 2024
Link: https://doi.org/10.2217/..
 
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9

Preventative treatment of tuberous sclerosis complex with s..:

Capal, Jamie K. ; Ritter, David M. ; Franz, David Neal...
Annals of the Child Neurology Society.  2 (2024)  2 - p. 106-119 , 2024
Link: https://doi.org/10.1002/..
 
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10

Abnormality of Early White Matter Development in Tuberous S..:

Srivastava, Siddharth ; Yang, Fanghan ; Prohl, Anna K....
Journal of Child Neurology.  39 (2024)  5-6 - p. 178-189 , 2024
Link: https://doi.org/10.1177/..
 
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11

Noonan syndrome and type 1 Chiari malformation: Possible as..:

Samuels, Megan ; Northrup, Hope
American Journal of Medical Genetics Part A.  , 2024
Link: https://doi.org/10.1002/..
 
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12

Best practice recommendations for the management of anxiety..:

Bjoraker, Kendra J. ; Eggerding, Caroline ; Ellenberg, Elisheva...
Molecular Genetics and Metabolism.  141 (2024)  1 - p. 107737 , 2024
Link: https://doi.org/10.1016/..
 
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13

Targeted Genomic Sequencing of TSC1 and TSC2 Reveals Causal..:

West, Hannah D. ; Nellist, Mark ; Brouwer, Rutger W. W....
Human Mutation.  2023 (2023)  - p. 1-18 , 2023
Link: https://doi.org/10.1155/..
 
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14

SRSF1 haploinsufficiency is responsible for a syndromic dev..:

Bogaert, Elke ; Garde, Aurore ; Gautier, Thierry...
The American Journal of Human Genetics.  110 (2023)  5 - p. 790-808 , 2023
Link: https://doi.org/10.1016/..
 
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15

Mild TSC phenotype and non-penetrance associated with a fra..:

Farach, Laura S. ; Northrup, Hope ; Nellist, Mark...
Gene.  877 (2023)  - p. 147566 , 2023
Link: https://doi.org/10.1016/..
 
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