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Richard E Lutz

Showing results (1-10 of 12) with videos related to

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Seminars in Pediatric Neurology|March 3, 2007
Trinucleotide repeat disordersRichard E Lutz
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Diagnostic yield in the clinical genetic evaluation of autism spectrum disordersG Bradley Schaefer, Richard E Lutz
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 11, 2012
Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settingsEric T Rush, Kristi DeHaai, Rose M Kreikemeier, et al.
Journal of Pediatric Genetics|September 15, 2016
Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing lossEric T Rush, Kathleen S Caldwell, Rose M Kreikemeier, et al.
JAMA Dermatology|February 22, 2013
Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter studyMarc Z Handler, Kristina M Derrick, Richard E Lutz, et al.
Communications Biology|June 25, 2020
The iron-sulphur cluster in human DNA2 is required for all biochemical activities of DNA2Laura Mariotti, Sebastian Wild, Giulia Brunoldi, et al.
Child Neurology Open|July 27, 2018
Novel <i>PLP1</i> Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical PhenotypesRebecca L Margraf, Jacob Durtschi, Bryan Krock, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2015
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation typesJing Wang, Hui Yu, Victor Wei Zhang, et al.
Journal of Pediatric Gastroenterology and Nutrition|March 3, 2009
De novo mutations in POLG presenting with acute liver failure or encephalopathyRichard E Lutz, David Dimmock, Eric S Schmitt, et al.
The New England Journal of Medicine|March 9, 2012
Enzyme-replacement therapy in life-threatening hypophosphatasiaMichael P Whyte, Cheryl R Greenberg, Nada J Salman, et al.
Pageof 2

Showing results (1-10 of 12) with videos related to

Sort By:
Pageof 2
Seminars in Pediatric Neurology|March 3, 2007
Trinucleotide repeat disordersRichard E Lutz
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 19, 2006
Diagnostic yield in the clinical genetic evaluation of autism spectrum disordersG Bradley Schaefer, Richard E Lutz
Journal of Pediatric Endocrinology & Metabolism : JPEM|August 11, 2012
Evaluation and comparison of safety, convenience and cost of administering intravenous pamidronate infusions to children in the home and ambulatory care settingsEric T Rush, Kristi DeHaai, Rose M Kreikemeier, et al.
Journal of Pediatric Genetics|September 15, 2016
Osteogenesis imperfecta caused by PPIB mutation with severe phenotype and congenital hearing lossEric T Rush, Kathleen S Caldwell, Rose M Kreikemeier, et al.
JAMA Dermatology|February 22, 2013
Prevalence of pilomatricoma in Turner syndrome: findings from a multicenter studyMarc Z Handler, Kristina M Derrick, Richard E Lutz, et al.
Communications Biology|June 25, 2020
The iron-sulphur cluster in human DNA2 is required for all biochemical activities of DNA2Laura Mariotti, Sebastian Wild, Giulia Brunoldi, et al.
Child Neurology Open|July 27, 2018
Novel <i>PLP1</i> Mutations Identified With Next-Generation Sequencing Expand the Spectrum of PLP1-Associated Leukodystrophy Clinical PhenotypesRebecca L Margraf, Jacob Durtschi, Bryan Krock, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 25, 2015
Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation typesJing Wang, Hui Yu, Victor Wei Zhang, et al.
Journal of Pediatric Gastroenterology and Nutrition|March 3, 2009
De novo mutations in POLG presenting with acute liver failure or encephalopathyRichard E Lutz, David Dimmock, Eric S Schmitt, et al.
The New England Journal of Medicine|March 9, 2012
Enzyme-replacement therapy in life-threatening hypophosphatasiaMichael P Whyte, Cheryl R Greenberg, Nada J Salman, et al.
Pageof 2