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Matthew A Deardorff

Showing results (21-30 of 128) with videos related to

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Molecular Genetics and Metabolism|June 11, 2013
Improving surveillance for hyperammonemia in the newbornSamantha A Vergano, Jonathan M Crossette, Frederick C Cusick, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCRKatsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, et al.
ACS Chemical Biology|July 31, 2014
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disordersChristophe Decroos, Christine M Bowman, Joe-Ann S Moser, et al.
JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
A human case of SLC35A3-related skeletal dysplasiaAndrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, et al.
Journal of Proteome Research|October 31, 2012
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genesAnna Gimigliano, Linda Mannini, Laura Bianchi, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unitRebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, et al.
Biochemistry|October 15, 2015
Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disordersChristophe Decroos, Nicolas H Christianson, Laura E Gullett, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Beckwith-Wiedemann syndrome in diverse populationsKelly A Duffy, Brian J Sajorda, Alice C Yu, et al.
Frontiers in Pediatrics|May 30, 2019
Hematopoietic Stem Cell Transplant for the Treatment of X-MAIDSarah E Henrickson, Isabelle Andre-Schmutz, Chantal Lagresle-Peyrou, et al.
Pageof 13

Showing results (21-30 of 128) with videos related to

Sort By:
Pageof 13
Molecular Genetics and Metabolism|June 11, 2013
Improving surveillance for hyperammonemia in the newbornSamantha A Vergano, Jonathan M Crossette, Frederick C Cusick, et al.
Molecular Genetics & Genomic Medicine|June 2, 2016
Mosaic ratio quantification of isochromosome 12p in Pallister-Killian syndrome using droplet digital PCRKatsunori Fujiki, Katsuhiko Shirahige, Maninder Kaur, et al.
ACS Chemical Biology|July 31, 2014
Compromised structure and function of HDAC8 mutants identified in Cornelia de Lange Syndrome spectrum disordersChristophe Decroos, Christine M Bowman, Joe-Ann S Moser, et al.
JIMD Reports|February 28, 2016
ECHS1 Deficiency as a Cause of Severe Neonatal Lactic AcidosisRebecca D Ganetzky, Kaitlyn Bloom, Rebecca Ahrens-Nicklas, et al.
American Journal of Medical Genetics. Part A|August 5, 2017
A human case of SLC35A3-related skeletal dysplasiaAndrew C Edmondson, Emma C Bedoukian, Matthew A Deardorff, et al.
Journal of Proteome Research|October 31, 2012
Proteomic profile identifies dysregulated pathways in Cornelia de Lange syndrome cells with distinct mutations in SMC1A and SMC3 genesAnna Gimigliano, Linda Mannini, Laura Bianchi, et al.
American Journal of Medical Genetics. Part A|September 9, 2016
Utility of genetic evaluation in infants with congenital heart defects admitted to the cardiac intensive care unitRebecca C Ahrens-Nicklas, Shama Khan, Jennifer Garbarini, et al.
Biochemistry|October 15, 2015
Biochemical and structural characterization of HDAC8 mutants associated with Cornelia de Lange syndrome spectrum disordersChristophe Decroos, Nicolas H Christianson, Laura E Gullett, et al.
American Journal of Medical Genetics. Part A|February 6, 2019
Beckwith-Wiedemann syndrome in diverse populationsKelly A Duffy, Brian J Sajorda, Alice C Yu, et al.
Frontiers in Pediatrics|May 30, 2019
Hematopoietic Stem Cell Transplant for the Treatment of X-MAIDSarah E Henrickson, Isabelle Andre-Schmutz, Chantal Lagresle-Peyrou, et al.
Pageof 13