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Janice Fletcher

Showing results (21-30 of 36) with videos related to

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Lancet (London, England)|January 9, 2007
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort studyBridget Wilcken, Marion Haas, Pamela Joy, et al.
Molecular Genetics and Metabolism|May 12, 2018
Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII miceZhirui Jiang, Ainslie L K Derrick-Roberts, Matilda R Jackson, et al.
Molecular Genetics and Metabolism|December 27, 2021
Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205]Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R Jackson, et al.
Molecular Genetics and Metabolism|August 3, 2020
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosesAinslie Derrick-Roberts, Xenia Kaidonis, Matilda R Jackson, et al.
International Journal of Neonatal Screening|June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family PlanningMona Sajeev, Sharon Chin, Gladys Ho, et al.
Journal of Paediatrics and Child Health|April 7, 2010
The natural history and osteodystrophy of mucolipidosis types II and IIIGrace David-Vizcarra, Julie Briody, Jenny Ault, et al.
JIMD Reports|March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidenceBernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.
Pageof 4

Showing results (21-30 of 36) with videos related to

Sort By:
Pageof 4
Lancet (London, England)|January 9, 2007
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort studyBridget Wilcken, Marion Haas, Pamela Joy, et al.
Molecular Genetics and Metabolism|May 12, 2018
Delayed development of ossification centers in the tibia of prenatal and early postnatal MPS VII miceZhirui Jiang, Ainslie L K Derrick-Roberts, Matilda R Jackson, et al.
Molecular Genetics and Metabolism|December 27, 2021
Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205]Ainslie Derrick-Roberts, Xenia Kaidonis, Matilda R Jackson, et al.
Molecular Genetics and Metabolism|August 3, 2020
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosesAinslie Derrick-Roberts, Xenia Kaidonis, Matilda R Jackson, et al.
International Journal of Neonatal Screening|June 2, 2021
Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family PlanningMona Sajeev, Sharon Chin, Gladys Ho, et al.
Journal of Paediatrics and Child Health|April 7, 2010
The natural history and osteodystrophy of mucolipidosis types II and IIIGrace David-Vizcarra, Julie Briody, Jenny Ault, et al.
JIMD Reports|March 11, 2020
Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidenceBernd C Schwahn, Thomas Scheffner, Hedwig Stepman, et al.
Molecular Genetics and Metabolism|August 4, 2022
The relationship between beta-ureidopropionase deficiency due to UPB1 variants and human phenotypes is uncertainSarah Righetti, Richard J N Allcock, Joy Yaplito-Lee, et al.
Pediatrics|July 22, 2009
Expanded newborn screening: outcome in screened and unscreened patients at age 6 yearsBridget Wilcken, Marion Haas, Pamela Joy, et al.
Human Mutation|December 26, 2003
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type IIMonique M P Hermans, Dik van Leenen, Marian A Kroos, et al.
Pageof 4