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Chitra Prasad

Showing results (61-70 of 114) with videos related to

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European Journal of Human Genetics : EJHG|January 31, 2018
Psychosocial impact on mothers receiving expanded newborn screening resultsKathleen O'Connor, Tara Jukes, Sharan Goobie, et al.
Molecular Genetics and Metabolism|January 13, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruenceStephanie Newman, Srinitya Gannavarapu, Andrea C Yu, et al.
JIMD Reports|January 19, 2026
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case SeriesSamuel Quinn Tholl, Wendy McCaul, Anthony Rupar, et al.
American Journal of Medical Genetics|February 22, 2002
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotypeChitra Prasad, Sandra Marles, Asuri N Prasad, et al.
Clinical Biochemistry|July 11, 2024
Canadian guidance for diagnosis and management of acute hepatic porphyriasJuan Francisco Idiaquez, Aditi Khandelwal, Bassam A Nassar, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
Paediatrics & Child Health|January 5, 2010
Congenital rickets caused by maternal vitamin D deficiencyA Micheil Innes, Molly M Seshia, Chitra Prasad, et al.
American Journal of Medical Genetics. Part A|August 20, 2021
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohortDavid Heikoop, Lauren Brick, David Chitayat, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiencySali M K Farhan, Jian Wang, John F Robinson, et al.
Frontiers in Neurology|December 11, 2023
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case seriesMontaha Almudhry, Arushi Gahlot Saini, Mohammed A Al-Omari, et al.
Pageof 12

Showing results (61-70 of 114) with videos related to

Sort By:
Pageof 12
European Journal of Human Genetics : EJHG|January 31, 2018
Psychosocial impact on mothers receiving expanded newborn screening resultsKathleen O'Connor, Tara Jukes, Sharan Goobie, et al.
Molecular Genetics and Metabolism|January 13, 2026
Navigating the complexity of managing coexisting inborn errors of metabolism and gender incongruenceStephanie Newman, Srinitya Gannavarapu, Andrea C Yu, et al.
JIMD Reports|January 19, 2026
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case SeriesSamuel Quinn Tholl, Wendy McCaul, Anthony Rupar, et al.
American Journal of Medical Genetics|February 22, 2002
Smith-Lemli-Opitz syndrome: new mutation with a mild phenotypeChitra Prasad, Sandra Marles, Asuri N Prasad, et al.
Clinical Biochemistry|July 11, 2024
Canadian guidance for diagnosis and management of acute hepatic porphyriasJuan Francisco Idiaquez, Aditi Khandelwal, Bassam A Nassar, et al.
Frontiers in Neurology|November 2, 2023
Biallelic pathogenic variants in <i>POLR3D</i> alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case reportJulia Macintosh, Stefanie Perrier, Maxime Pinard, et al.
Paediatrics & Child Health|January 5, 2010
Congenital rickets caused by maternal vitamin D deficiencyA Micheil Innes, Molly M Seshia, Chitra Prasad, et al.
American Journal of Medical Genetics. Part A|August 20, 2021
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohortDavid Heikoop, Lauren Brick, David Chitayat, et al.
Molecular Genetics & Genomic Medicine|February 6, 2014
Exome sequencing identifies NFS1 deficiency in a novel Fe-S cluster disease, infantile mitochondrial complex II/III deficiencySali M K Farhan, Jian Wang, John F Robinson, et al.
Frontiers in Neurology|December 11, 2023
Methylmalonic aciduria as a biochemical marker for mitochondrial DNA depletion syndrome in patients with developmental delay and movement disorders: a case seriesMontaha Almudhry, Arushi Gahlot Saini, Mohammed A Al-Omari, et al.
Pageof 12