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1 .
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
저자
by
Fernanda Leal‐Pardinas
;
Rebecca Truty
;
Dianalee A. McKnight
;
Britt Johnson
;
Ana Morales
, et al.
소스
Epilepsia
. 63(7)
Open Access (OpenAIRE)
Scopus
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7 .
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
저자
by
Marina Trivisano
;
Lenora Lehwald
;
Paul Gissen
;
Jessica Cohen-Pfeffer
;
Nicola Specchio
, et al.
소스
Journal of Child Neurology
Journal of child neurology, vol 36, iss 6
Open Access (OpenAIRE)
Web of Science
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7 .
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
저자
by
Lenora Lehwald
;
Jessica L. Cohen-Pfeffer
;
Karen Butler
;
Elizabeth Berry-Kravis
;
Sam Lu
, et al.
소스
Pediatric Neurology
. 110:64-70
Full Text (Clinical Key)
Open Access (OpenAIRE)
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7 .
DETECT LYSOSOMAL STORAGE DISEASES, A NO-CHARGE SPONSORED TESTING PROGRAM, ENABLES ACCESS TO GENETIC TESTING, TREATMENT, AND CLINICAL TRIALS FOR INDIVIDUALS WITH SUSPECTED LYSOSOMAL STORAGE DISORDERS
저자
by
Britt Johnson
;
Kathleen Crosby
;
Matthew Furgerson
;
Fernanda Leal-Pardinas
;
Asia Mitchell
, et al.
소스
Molecular Genetics and Metabolism
. 135:281
Web of Science
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7 .
Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders
저자
by
Heather M. McLaughlin
;
Michele Clarke
;
Kathleen Crosby
;
Matthew Furgerson
;
Fernanda Leal-Pardinas
, et al.
소스
Molecular Genetics and Metabolism
. 135:S81
Web of Science
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7 .
Connect: Designing a first-in-human gene replacement therapy clinical trial for CLN1
저자
by
Fernanda Leal-Pardinas
;
Andy Cunningham
;
Kome Okposo
;
Dominic Marchese
;
Jessica Cardenas
, et al.
소스
Molecular Genetics and Metabolism
. 135:S73
Web of Science
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7 .
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: results from 10,853 tests
저자
by
Jessica Cohen-Pfeffer
;
John Millichap
;
Ana Morales
;
Fernanda Leal-Pardinas
;
Swaroop Aradhya
, et al.
소스
Molecular Genetics and Metabolism
. 132:S204
Web of Science
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7 .
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests
저자
by
Tiffany Pang
;
Fernanda Leal-Pardinas
;
Rebecca Truty
;
Dianalee A. McKnight
;
Britt Johnson
, et al.
소스
Molecular Genetics and Metabolism
. 132:S82
Web of Science
Scopus
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7 .
Intracerebroventricular cerliponase alfa for CLN2 disease: Clinical practice considerations from US clinics
저자
by
Jessica Cohen-Pfeffer
;
Amy Yang
;
Lenora Lehwald
;
Dorna Chu
;
Jacqueline Madden
, et al.
소스
Molecular Genetics and Metabolism
. 129:S158
Web of Science
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7 .
Update on a no-cost epilepsy gene panel for seizure onset between 2 and 4 years of age: Results from 682 tests
저자
by
Fernanda Leal-Pardinas
;
Elaine C. Wirrell
;
Rebecca Truty
;
Mitch Bailey
;
Sookyong Koh
, et al.
소스
Molecular Genetics and Metabolism
. 129:S126
Web of Science
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