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Sarah L Sawyer

Showing results (1-10 of 43) with videos related to

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Human Mutation|August 26, 2003
Negligible validation rate for public domain stop-codon SNPsSarah L Sawyer, Linda C Berglind, Anthony J Brookes
Biotechniques|September 4, 2003
Scoring insertion-deletion polymorphisms by dynamic allele-specific hybridizationSarah L Sawyer, W Mathias Howell, Anthony J Brookes
Human Molecular Genetics|July 9, 2015
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinLaura M McDonell, Kristin D Kernohan, Kym M Boycott, et al.
Current Neurology and Neuroscience Reports|June 25, 2013
Recent advances in the genetic etiology of brain malformationsDavid A Dyment, Sarah L Sawyer, Jodi Warman-Chardon, et al.
European Journal of Medical Genetics|May 17, 2015
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11ATugce B Balci, Sarah L Sawyer, Jorge Davila, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 15, 2018
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the LiteratureRaniah Al Qawahmed, Sarah L Sawyer, Michael Vassilyadi, et al.
Annual Review of Medicine|January 16, 2014
Identification of genes for childhood heritable diseasesKym M Boycott, David A Dyment, Sarah L Sawyer, et al.
Neurology. Genetics|April 12, 2016
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsPatrick Ferreira, Stephanie M Luco, Sarah L Sawyer, et al.
Pathology|September 1, 2023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injuryDina El Demellawy, Thomas Kovesi, Rachel Gowans, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
Linkage disequilibrium patterns vary substantially among populationsSarah L Sawyer, Namita Mukherjee, Andrew J Pakstis, et al.
Pageof 5

Showing results (1-10 of 43) with videos related to

Sort By:
Pageof 5
Human Mutation|August 26, 2003
Negligible validation rate for public domain stop-codon SNPsSarah L Sawyer, Linda C Berglind, Anthony J Brookes
Biotechniques|September 4, 2003
Scoring insertion-deletion polymorphisms by dynamic allele-specific hybridizationSarah L Sawyer, W Mathias Howell, Anthony J Brookes
Human Molecular Genetics|July 9, 2015
Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coinLaura M McDonell, Kristin D Kernohan, Kym M Boycott, et al.
Current Neurology and Neuroscience Reports|June 25, 2013
Recent advances in the genetic etiology of brain malformationsDavid A Dyment, Sarah L Sawyer, Jodi Warman-Chardon, et al.
European Journal of Medical Genetics|May 17, 2015
Brain malformations in a patient with deletion 2p16.1: A refinement of the phenotype to BCL11ATugce B Balci, Sarah L Sawyer, Jorge Davila, et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society|August 15, 2018
Infantile Myofibromatosis With Intracranial Extradural Involvement and PDGFRB Mutation: A Case Report and Review of the LiteratureRaniah Al Qawahmed, Sarah L Sawyer, Michael Vassilyadi, et al.
Annual Review of Medicine|January 16, 2014
Identification of genes for childhood heritable diseasesKym M Boycott, David A Dyment, Sarah L Sawyer, et al.
Neurology. Genetics|April 12, 2016
Late diagnosis of cerebral folate deficiency: Fewer seizures with folinic acid in adult siblingsPatrick Ferreira, Stephanie M Luco, Sarah L Sawyer, et al.
Pathology|September 1, 2023
Interstitial lung disease in a family with bi-allelic variants in ABCA3: non-specific interstitial pneumonitis pattern of injuryDina El Demellawy, Thomas Kovesi, Rachel Gowans, et al.
European Journal of Human Genetics : EJHG|January 20, 2005
Linkage disequilibrium patterns vary substantially among populationsSarah L Sawyer, Namita Mukherjee, Andrew J Pakstis, et al.
Pageof 5