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Nishitha R Pillai

Showing results (11-20 of 30) with videos related to

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JIMD Reports|January 17, 2025
Phenotypic variability and the gender paradox in the R363C variant of Fabry diseaseAlison C Leslie, Jeanine Jarnes, Alia Ahmed, et al.
Pediatric Dermatology|October 6, 2023
Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case seriesMorgan Dykman, Nishitha R Pillai, Kelsey Lenhart, et al.
International Journal of Neonatal Screening|March 27, 2026
Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I DiagnosisRithika Thampy, Nishitha R Pillai, Michael Evans, et al.
American Journal of Medical Genetics. Part A|March 3, 2025
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain SightCaroline Gully Brown, Matthew Bower, Matthew Schomaker, et al.
Molecular Genetics and Metabolism|August 5, 2023
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac functionNishitha R Pillai, Sara A Elsbecker, Ashish O Gupta, et al.
Journal of Medical Economics|September 4, 2025
A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United StatesRobert D Steiner, Tmirah Haselkorn, Nishitha R Pillai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2025
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase programSofia Shrestha, Alicia L Zagel, Nishitha R Pillai, et al.
Journal of Neuromuscular Diseases|October 28, 2025
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United StatesNishitha R Pillai, Faryn Solomon, Robert D Steiner, et al.
European Journal of Medical Genetics|August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomalyNishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
Pageof 3

Showing results (11-20 of 30) with videos related to

Sort By:
Pageof 3
JIMD Reports|January 17, 2025
Phenotypic variability and the gender paradox in the R363C variant of Fabry diseaseAlison C Leslie, Jeanine Jarnes, Alia Ahmed, et al.
Pediatric Dermatology|October 6, 2023
Arteriovenous malformations as a presenting sign of PTEN hamartoma tumor syndrome: A case seriesMorgan Dykman, Nishitha R Pillai, Kelsey Lenhart, et al.
International Journal of Neonatal Screening|March 27, 2026
Beyond Detection: Comparing State-Based Newborn Screening Methods for Effective Mucopolysaccharidosis I DiagnosisRithika Thampy, Nishitha R Pillai, Michael Evans, et al.
American Journal of Medical Genetics. Part A|March 3, 2025
Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain SightCaroline Gully Brown, Matthew Bower, Matthew Schomaker, et al.
Molecular Genetics and Metabolism|August 5, 2023
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac functionNishitha R Pillai, Sara A Elsbecker, Ashish O Gupta, et al.
Journal of Medical Economics|September 4, 2025
A retrospective cohort study of the economic burden of Pompe disease in patients treated with enzyme replacement therapy in the United StatesRobert D Steiner, Tmirah Haselkorn, Nishitha R Pillai, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 17, 2025
Pegvaliase therapy for phenylketonuria: Real-world safety, efficacy, and medication access outcomes in a pharmacist-led pegvaliase programSofia Shrestha, Alicia L Zagel, Nishitha R Pillai, et al.
Journal of Neuromuscular Diseases|October 28, 2025
A retrospective cohort study describing the disease burden in patients with Pompe disease treated with enzyme replacement therapy in the United StatesNishitha R Pillai, Faryn Solomon, Robert D Steiner, et al.
European Journal of Medical Genetics|August 25, 2018
Novel deletion of 6p21.31p21.1 associated with laryngeal cleft, developmental delay, dysmorphic features and vascular anomalyNishitha R Pillai, Dana Marafi, Sonia A Monteiro, et al.
American Journal of Medical Genetics. Part A|July 11, 2019
Biallelic variants in COX4I1 associated with a novel phenotype resembling Leigh syndrome with developmental regression, intellectual disability, and seizuresNishitha R Pillai, Noura S AlDhaheri, Rajarshi Ghosh, et al.
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