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David Dimmock

Showing results (91-100 of 101) with videos related to

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Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
American Journal of Human Genetics|June 5, 2021
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of careDavid Dimmock, Sara Caylor, Bryce Waldman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.
The New England Journal of Medicine|May 31, 2023
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory SyndromeHratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
Pageof 11

Showing results (91-100 of 101) with videos related to

Sort By:
Pageof 11
Mitochondrion|July 30, 2013
Practice patterns of mitochondrial disease physicians in North America. Part 1: diagnostic and clinical challengesSumit Parikh, Amy Goldstein, Mary Kay Koenig, et al.
American Journal of Human Genetics|June 5, 2021
Project Baby Bear: Rapid precision care incorporating rWGS in 5 California children's hospitals demonstrates improved clinical outcomes and reduced costs of careDavid Dimmock, Sara Caylor, Bryce Waldman, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 27, 2021
Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published casesFrancis Rossignol, Marvid S Duarte Moreno, Jean-François Benoist, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine SocietySumit Parikh, Amy Goldstein, Amel Karaa, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 8, 2017
Response to Newman et alSumit Parikh, Amy Goldstein, Amel Karaa, et al.
Journal of Medical Genetics|November 12, 2016
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT studyDerralynn A Hughes, Kathleen Nicholls, Suma P Shankar, et al.
The New England Journal of Medicine|May 31, 2023
Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory SyndromeHratch Baghdassarian, Sarah A Blackstone, Owen S Clay, et al.
JAMA Pediatrics|September 27, 2021
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial, Ian D Krantz, Livija Medne, et al.
Science Translational Medicine|April 26, 2019
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretationMichelle M Clark, Amber Hildreth, Sergey Batalov, et al.
American Journal of Human Genetics|October 23, 2018
De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and DyskinesiasKatherine L Helbig, Robert J Lauerer, Jacqueline C Bahr, et al.
Pageof 11