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Sumit Parikh

Showing results (51-60 of 97) with videos related to

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Journal of Pediatric Gastroenterology and Nutrition|April 14, 2025
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition 2025 guidelines for management of cyclic vomiting syndrome in childrenKatja Karrento, John M Rosen, Sally E Tarbell, et al.
Genome Research|March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
Annals of Clinical and Translational Neurology|February 23, 2016
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathyJacy L Wagnon, Bryan S Barker, James A Hounshell, et al.
Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Nature Communications|November 24, 2021
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysisKellan P Weston, Xiaoyi Gao, Jinghan Zhao, et al.
Pharmacotherapy|June 18, 2016
Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation ServicesJ Kevin Hicks, David Stowe, Marc A Willner, et al.
JIMD Reports|November 18, 2020
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospectsJirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, et al.
Annals of Clinical and Translational Neurology|March 19, 2024
Exploring the neurological features of individuals with germline PTEN variants: A multicenter studyAndrew Dhawan, Sarah Baitamouni, Darren Liu, et al.
Epilepsia|July 18, 2019
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and developmentScott T Demarest, Heather E Olson, Angela Moss, et al.
Pageof 10

Showing results (51-60 of 97) with videos related to

Sort By:
Pageof 10
Journal of Pediatric Gastroenterology and Nutrition|April 14, 2025
North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition 2025 guidelines for management of cyclic vomiting syndrome in childrenKatja Karrento, John M Rosen, Sally E Tarbell, et al.
Genome Research|March 9, 2011
Recurrence, submicroscopic complexity, and potential clinical relevance of copy gains detected by array CGH that are shown to be unbalanced insertions by FISHNicholas J Neill, Blake C Ballif, Allen N Lamb, et al.
Annals of Clinical and Translational Neurology|February 23, 2016
Pathogenic mechanism of recurrent mutations of SCN8A in epileptic encephalopathyJacy L Wagnon, Bryan S Barker, James A Hounshell, et al.
Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.
Molecular Genetics and Metabolism|July 4, 2012
Neurotransmitter abnormalities and response to supplementation in SPG11Adeline Vanderver, Davide Tonduti, Sarah Auerbach, et al.
Nature Communications|November 24, 2021
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysisKellan P Weston, Xiaoyi Gao, Jinghan Zhao, et al.
Pharmacotherapy|June 18, 2016
Implementation of Clinical Pharmacogenomics within a Large Health System: From Electronic Health Record Decision Support to Consultation ServicesJ Kevin Hicks, David Stowe, Marc A Willner, et al.
JIMD Reports|November 18, 2020
Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospectsJirair K Bedoyan, Rosemary Hage, Ha Kyung Shin, et al.
Annals of Clinical and Translational Neurology|March 19, 2024
Exploring the neurological features of individuals with germline PTEN variants: A multicenter studyAndrew Dhawan, Sarah Baitamouni, Darren Liu, et al.
Epilepsia|July 18, 2019
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and developmentScott T Demarest, Heather E Olson, Angela Moss, et al.
Pageof 10