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David Dimmock

Showing results (21-30 of 101) with videos related to

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American Journal of Medical Genetics. Part A|March 22, 2021
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case reportIndira Chandrasekar, Anne Tourney, Kamela Loo, et al.
Pediatrics|March 3, 2007
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate dietDavid Dimmock, Keiko Kobayashi, Mikio Iijima, et al.
Journal of Clinical Immunology|April 15, 2021
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 MutationHye Sun Kuehn, Nicholas J Gloude, David Dimmock, et al.
Journal of Intensive Care Medicine|December 9, 2024
Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome SequencingKatherine Perofsky, Ami Doshi, Zaineb Boulil, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1Erica Sanford, Kelly Watkins, Shareef Nahas, et al.
Clinical Case Reports|December 3, 2019
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancySejal Kadakia, Lauge Farnaes, David Dimmock, et al.
Molecular Genetics and Metabolism|June 25, 2013
Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemiasUta Lichter-Konecki, Vinay Nadkarni, Asha Moudgil, et al.
Pediatric Pulmonology|December 3, 2020
Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive populationChelsea Gatcliffe, Aparna Rao, Matthew Brigger, et al.
Pageof 11

Showing results (21-30 of 101) with videos related to

Sort By:
Pageof 11
American Journal of Medical Genetics. Part A|March 22, 2021
Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case reportIndira Chandrasekar, Anne Tourney, Kamela Loo, et al.
Pediatrics|March 3, 2007
Citrin deficiency: a novel cause of failure to thrive that responds to a high-protein, low-carbohydrate dietDavid Dimmock, Keiko Kobayashi, Mikio Iijima, et al.
Journal of Clinical Immunology|April 15, 2021
Abnormal SCID Newborn Screening and Spontaneous Recovery Associated with a Novel Haploinsufficiency IKZF1 MutationHye Sun Kuehn, Nicholas J Gloude, David Dimmock, et al.
Journal of Intensive Care Medicine|December 9, 2024
Palliative Care Outcomes for Critically ill Children After Rapid Whole Genome SequencingKatherine Perofsky, Ami Doshi, Zaineb Boulil, et al.
Cold Spring Harbor Molecular Case Studies|May 28, 2017
Rapid whole-genome sequencing identifies a novel homozygous <i>NPC1</i> variant associated with Niemann-Pick type C1 disease in a 7-week-old male with cholestasisAmber Hildreth, Kristen Wigby, Shimul Chowdhury, et al.
NPJ Genomic Medicine|July 14, 2018
Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseasesMichelle M Clark, Zornitza Stark, Lauge Farnaes, et al.
Cold Spring Harbor Molecular Case Studies|February 14, 2018
Rapid whole-genome sequencing identifies a novel <i>AIRE</i> variant associated with autoimmune polyendocrine syndrome type 1Erica Sanford, Kelly Watkins, Shareef Nahas, et al.
Clinical Case Reports|December 3, 2019
Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancySejal Kadakia, Lauge Farnaes, David Dimmock, et al.
Molecular Genetics and Metabolism|June 25, 2013
Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemiasUta Lichter-Konecki, Vinay Nadkarni, Asha Moudgil, et al.
Pediatric Pulmonology|December 3, 2020
Metagenomic sequencing and evaluation of the host response in the pediatric aerodigestive populationChelsea Gatcliffe, Aparna Rao, Matthew Brigger, et al.
Pageof 11