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Chitra Prasad

Showing results (41-50 of 114) with videos related to

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Case Reports in Genetics|June 6, 2022
Pitfalls in Genetic Testing for Consanguineous Pediatric PopulationsMaha Saleh, Samantha Colaiacovo, Melanie P Napier, et al.
Clinical Case Reports|October 14, 2022
Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17pMelab Musabi, Ayman Saker, Jessi Baer, et al.
European Journal of Medical Genetics|August 14, 2018
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, et al.
Paediatrics & Child Health|April 2, 2013
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screeningChitra Prasad, Kathy N Speechley, Sarah Dyack, et al.
Molecular Genetics and Metabolism Reports|July 29, 2025
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literatureMontaha Almudhry, Chitra Prasad, Keng Yow Tay, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Isolated sulfite oxidase deficiency: a founder mutationAizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, et al.
Frontiers in Neurology|January 10, 2022
<i>De novo STXBP1</i> Mutations in Two Patients With Developmental Delay With or Without Epileptic SeizuresPing Yang, Robert Broadbent, Chitra Prasad, et al.
Congenital Anomalies|November 9, 2007
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolismAsuri N Prasad, Kelly Bunzeluk, Chitra Prasad, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control studySimone S Vaz, Bernard Chodirker, Chitra Prasad, et al.
JIMD Reports|January 21, 2021
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcomeAshish Marwaha, Judy Ibrahim, Taylor Rice, et al.
Pageof 12

Showing results (41-50 of 114) with videos related to

Sort By:
Pageof 12
Case Reports in Genetics|June 6, 2022
Pitfalls in Genetic Testing for Consanguineous Pediatric PopulationsMaha Saleh, Samantha Colaiacovo, Melanie P Napier, et al.
Clinical Case Reports|October 14, 2022
Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17pMelab Musabi, Ayman Saker, Jessi Baer, et al.
European Journal of Medical Genetics|August 14, 2018
Further delineation of TBCK - Infantile hypotonia with psychomotor retardation and characteristic facies type 3Eugenio Zapata-Aldana, David Dongkyung Kim, Salma Remtulla, et al.
Paediatrics & Child Health|April 2, 2013
Incidence of medium-chain acyl-CoA dehydrogenase deficiency in Canada using the Canadian Paediatric Surveillance Program: Role of newborn screeningChitra Prasad, Kathy N Speechley, Sarah Dyack, et al.
Molecular Genetics and Metabolism Reports|July 29, 2025
Outcome of two siblings with late-onset Krabbe disease following allogeneic hematopoietic stem cell transplantation: And review of literatureMontaha Almudhry, Chitra Prasad, Keng Yow Tay, et al.
Cold Spring Harbor Molecular Case Studies|December 18, 2020
Isolated sulfite oxidase deficiency: a founder mutationAizeddin A Mhanni, Cheryl R Greenberg, Elizabeth L Spriggs, et al.
Frontiers in Neurology|January 10, 2022
<i>De novo STXBP1</i> Mutations in Two Patients With Developmental Delay With or Without Epileptic SeizuresPing Yang, Robert Broadbent, Chitra Prasad, et al.
Congenital Anomalies|November 9, 2007
Agenesis of the corpus callosum and cerebral anomalies in inborn errors of metabolismAsuri N Prasad, Kelly Bunzeluk, Chitra Prasad, et al.
American Journal of Medical Genetics. Part A|March 16, 2012
Risk factors for nonsyndromic holoprosencephaly: a Manitoba case-control studySimone S Vaz, Bernard Chodirker, Chitra Prasad, et al.
JIMD Reports|January 21, 2021
Two cases of carbonic anhydrase VA deficiency-An ultrarare metabolic decompensation syndrome presenting with hyperammonemia, lactic acidosis, ketonuria, and good clinical outcomeAshish Marwaha, Judy Ibrahim, Taylor Rice, et al.
Pageof 12