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1 . Academic Journal
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study
저자
by
Aggarwal, Anjali
;
Northrup, Hope
;
Rodriguez-Buritica, David F.
;
Hashmi, S. Shahrukh
;
Saavedra, Heather
.
소스
Journal of Inborn Errors of Metabolism and Screening
. January 2021 9
Open Access (SciELO)
Scopus
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7 . Academic Journal
Pegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program
저자
by
Harding, Cary O.
;
Longo, Nicola
;
Northrup, Hope
;
Sacharow, Stephanie
;
Singh, Rani
, et al.
소스
In
Molecular Genetics and Metabolism Reports
June 2024 39
Full Text (ScienceDirect)
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Web of Science
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7 . Academic Journal
Best practice recommendations for the management of anxiety during the pegvaliase journey
저자
by
Bjoraker, Kendra J.
;
Eggerding, Caroline
;
Ellenberg, Elisheva
;
Hollander, Suzanne
;
Holmes, Brittany M.
, et al.
소스
In
Molecular Genetics and Metabolism
January 2024 141(1)
Full Text (ScienceDirect)
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7 . Academic Journal
Mild TSC phenotype and non-penetrance associated with a frameshift variant in TSC2 prompts caution in evaluating pathogenicity of frameshift variants
저자
by
Farach, Laura S.
;
Northrup, Hope
;
Nellist, Mark
;
van Unen, Leontine
;
Hillman, Paul
, et al.
소스
In
Gene
15 August 2023 877
Full Text (ScienceDirect)
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7 . Academic Journal
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
저자
by
Bogaert, Elke
;
Garde, Aurore
;
Gautier, Thierry
;
Rooney, Kathleen
;
Duffourd, Yannis
, et al.
소스
In
The American Journal of Human Genetics
4 May 2023 110(5):790-808
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7 . Academic Journal
Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.
저자
by
Richard, Melissa A.
;
Lupo, Philip J.
;
Ehli, Erik A.
;
Sahin, Mustafa
;
Krueger, Darcy A.
, et al.
소스
American Journal of Medical Genetics. Part A; Jun2024, Vol. 194 Issue 6, p1-9, 9p
Web of Science
Scopus
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7 . Academic Journal
High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex
저자
by
Pearson, Deborah
;
Williams, Marian E.
;
Hanson, Ellen
;
Bing, Nicole
;
Kent, Bridget
, et al.
소스
In
Epilepsy Research
December 2018 148:1-7
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7 . Academic Journal
Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex
저자
by
Bernardo, Danilo
;
Nariai, Hiroki
;
Hussain, Shaun A.
;
Sankar, Raman
;
Salamon, Noriko
, et al.
소스
In
Clinical Neurophysiology
July 2018 129(7):1458-1466
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7 . Academic Journal
P439: Yet another neurodevelopmental single gene disorder: G3BP1-related disorder
저자
by
Richardson, Kate
;
Northrup, Hope
.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
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4 . Academic Journal
Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature
저자
by
Aggarwal, Anjali
;
Rodriguez-Buritica, David F.
;
Northrup, Hope
.
소스
In
European Journal of Medical Genetics
June 2017 60(6):285-288
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