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Chitra Prasad

Showing results (51-60 of 114) with videos related to

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The Neuroradiology Journal|March 9, 2018
Magnetic resonance imaging in the diagnosis of white matter signal abnormalitiesRavi Datar, Asuri Narayan Prasad, Keng Yeow Tay, et al.
Pediatric Transplantation|April 12, 2019
Kidney disease and organ transplantation in methylmalonic acidaemiaDamien Noone, Magdalena Riedl, Paul Atkison, et al.
Journal of Investigative Medicine High Impact Case Reports|June 3, 2021
Abetalipoproteinemia Due to a Novel Splicing Variant in <i>MTTP</i> in 3 SiblingsCaitlyn Vlasschaert, Adam D McIntyre, Lauren A Thomson, et al.
Frontiers in Neurology|October 4, 2023
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case reportMontaha Almudhry, Asuri N Prasad, C Anthony Rupar, et al.
Molecular Genetics and Metabolism Reports|October 12, 2020
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolismPrashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'Oto-Rhino-Laryngologie Et De Chirurgie Cervico-Faciale|April 14, 2012
Neurofibromatosis and velopharyngeal insufficiency: is there an association?Irene Zhang, Murad Husein, Anne Dworschak-Stokan, et al.
Molecular Genetics and Metabolism|February 5, 2013
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblingsChitra Prasad, Serge B Melançon, C Anthony Rupar, et al.
Clinical Case Reports|August 28, 2023
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous coupleTalib Al Harthy, Samantha Colaiacovo, Robert J Gratton, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 7, 2014
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odysseyChitra Prasad, C Anthony Rupar, Craig Campbell, et al.
JIMD Reports|November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinosesAbdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.
Pageof 12

Showing results (51-60 of 114) with videos related to

Sort By:
Pageof 12
The Neuroradiology Journal|March 9, 2018
Magnetic resonance imaging in the diagnosis of white matter signal abnormalitiesRavi Datar, Asuri Narayan Prasad, Keng Yeow Tay, et al.
Pediatric Transplantation|April 12, 2019
Kidney disease and organ transplantation in methylmalonic acidaemiaDamien Noone, Magdalena Riedl, Paul Atkison, et al.
Journal of Investigative Medicine High Impact Case Reports|June 3, 2021
Abetalipoproteinemia Due to a Novel Splicing Variant in <i>MTTP</i> in 3 SiblingsCaitlyn Vlasschaert, Adam D McIntyre, Lauren A Thomson, et al.
Frontiers in Neurology|October 4, 2023
A milder form of molybdenum cofactor deficiency type A presenting as Leigh's syndrome-like phenotype highlighting the secondary mitochondrial dysfunction: a case reportMontaha Almudhry, Asuri N Prasad, C Anthony Rupar, et al.
Molecular Genetics and Metabolism Reports|October 12, 2020
Parental psychosocial aspects and stressors involved in the management of inborn errors of metabolismPrashanth Rajasekar, Srinitya Gannavarapu, Melanie Napier, et al.
Journal of Otolaryngology - Head & Neck Surgery = Le Journal D'Oto-Rhino-Laryngologie Et De Chirurgie Cervico-Faciale|April 14, 2012
Neurofibromatosis and velopharyngeal insufficiency: is there an association?Irene Zhang, Murad Husein, Anne Dworschak-Stokan, et al.
Molecular Genetics and Metabolism|February 5, 2013
Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblingsChitra Prasad, Serge B Melançon, C Anthony Rupar, et al.
Clinical Case Reports|August 28, 2023
Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous coupleTalib Al Harthy, Samantha Colaiacovo, Robert J Gratton, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|November 7, 2014
Case of multiple sulfatase deficiency and ocular albinism: a diagnostic odysseyChitra Prasad, C Anthony Rupar, Craig Campbell, et al.
JIMD Reports|November 20, 2019
High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinosesAbdulhakim Jilani, Diana Matviychuk, Susan Blaser, et al.
Pageof 12