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Nishitha R Pillai

Showing results (1-10 of 30) with videos related to

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Bone|October 4, 2022
Phenotype-autosomal recessive osteopetrosisNishitha R Pillai, Anjali Aggarwal, Paul Orchard
Genes|July 27, 2022
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature ReviewNishitha R Pillai, Alia Ahmed, Todd Vanyo, et al.
American Journal of Medical Genetics. Part A|April 6, 2022
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic featuresNishitha R Pillai, Dana Miller, Grace Bronken, et al.
American Journal of Medical Genetics. Part A|March 17, 2021
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental courseNishitha R Pillai, Dana Miller, Elizabeth I Pierpont, et al.
Clinical Genetics|November 23, 2023
Parental request for familial carrier testing in early childhood: The genetic counseling perspectiveSabrina V Southwick, Ian M MacFarlane, Catherine Long, et al.
American Journal of Medical Genetics. Part A|December 14, 2021
Rare presentation of FDX2-related disorder and untargeted global metabolomics findingsAnjali Aggarwal, Nishitha R Pillai, Charles J Billington, et al.
European Journal of Human Genetics : EJHG|January 8, 2025
Predicting the phenotype of Pompe Disease from features of GAA variantsGeetanjali Rajamani, Nishitha R Pillai, Seth A Stafki, et al.
Molecular Genetics and Metabolism|August 21, 2025
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)Nishitha R Pillai, Sofia Shrestha, Alia Ahmed, et al.
Molecular Genetics and Metabolism Reports|January 13, 2025
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot studyJeanine R Jarnes, Nishitha R Pillai, Alia Ahmed, et al.
ACG Case Reports Journal|November 1, 2021
Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (<i>ITPR1</i>) Missense VariantNaomi E Butler Tjaden, Eric H Chiou, Nishitha R Pillai, et al.
Pageof 3

Showing results (1-10 of 30) with videos related to

Sort By:
Pageof 3
Bone|October 4, 2022
Phenotype-autosomal recessive osteopetrosisNishitha R Pillai, Anjali Aggarwal, Paul Orchard
Genes|July 27, 2022
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature ReviewNishitha R Pillai, Alia Ahmed, Todd Vanyo, et al.
American Journal of Medical Genetics. Part A|April 6, 2022
MED12-related Hardikar syndrome: Two additional cases and novel phenotypic featuresNishitha R Pillai, Dana Miller, Grace Bronken, et al.
American Journal of Medical Genetics. Part A|March 17, 2021
Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental courseNishitha R Pillai, Dana Miller, Elizabeth I Pierpont, et al.
Clinical Genetics|November 23, 2023
Parental request for familial carrier testing in early childhood: The genetic counseling perspectiveSabrina V Southwick, Ian M MacFarlane, Catherine Long, et al.
American Journal of Medical Genetics. Part A|December 14, 2021
Rare presentation of FDX2-related disorder and untargeted global metabolomics findingsAnjali Aggarwal, Nishitha R Pillai, Charles J Billington, et al.
European Journal of Human Genetics : EJHG|January 8, 2025
Predicting the phenotype of Pompe Disease from features of GAA variantsGeetanjali Rajamani, Nishitha R Pillai, Seth A Stafki, et al.
Molecular Genetics and Metabolism|August 21, 2025
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)Nishitha R Pillai, Sofia Shrestha, Alia Ahmed, et al.
Molecular Genetics and Metabolism Reports|January 13, 2025
Dose-intensive therapy (DIT) for infantile Pompe disease: A pilot studyJeanine R Jarnes, Nishitha R Pillai, Alia Ahmed, et al.
ACG Case Reports Journal|November 1, 2021
Gastrointestinal Dysmotility Is a Significant Feature in 2 Siblings With a Novel Inositol 1,4,5-Triphosphate Receptor 1 (<i>ITPR1</i>) Missense VariantNaomi E Butler Tjaden, Eric H Chiou, Nishitha R Pillai, et al.
Pageof 3