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Pranesh K Chakraborty

Showing results (1-10 of 7) with videos related to

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Pediatric Research|August 22, 2003
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 geneBarbara Burwinkel, Terje Rootwelt, Eli Anne Kvittingen, et al.
Oncotarget|November 24, 2015
ERK8 is a novel HuR kinase that regulates tumour suppressor PDCD4 through a miR-21 dependent mechanismUrszula Liwak-Muir, Christine C Dobson, Thet Naing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 11, 2019
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targetsPaul J Azzopardi, Ross E G Upshur, Stephanie Luca, et al.
Orphanet Journal of Rare Diseases|June 19, 2016
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblastsUrszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, et al.
Paediatrics & Child Health|May 3, 2021
Early hearing detection and intervention in CanadaPuneeta Khurana, Sharon L Cushing, Pranesh K Chakraborty, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
Blood|September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
Pediatric Research|August 22, 2003
Severe phenotype of phosphorylase kinase-deficient liver glycogenosis with mutations in the PHKG2 geneBarbara Burwinkel, Terje Rootwelt, Eli Anne Kvittingen, et al.
Oncotarget|November 24, 2015
ERK8 is a novel HuR kinase that regulates tumour suppressor PDCD4 through a miR-21 dependent mechanismUrszula Liwak-Muir, Christine C Dobson, Thet Naing, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 11, 2019
Health-care providers' perspectives on uncertainty generated by variant forms of newborn screening targetsPaul J Azzopardi, Ross E G Upshur, Stephanie Luca, et al.
Orphanet Journal of Rare Diseases|June 19, 2016
Impaired activity of CCA-adding enzyme TRNT1 impacts OXPHOS complexes and cellular respiration in SIFD patient-derived fibroblastsUrszula Liwak-Muir, Hapsatou Mamady, Turaya Naas, et al.
Paediatrics & Child Health|May 3, 2021
Early hearing detection and intervention in CanadaPuneeta Khurana, Sharon L Cushing, Pranesh K Chakraborty, et al.
Human Mutation|September 27, 2002
Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotypeNancy Braverman, Li Chen, Paul Lin, et al.
Blood|September 7, 2014
Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)Pranesh K Chakraborty, Klaus Schmitz-Abe, Erin K Kennedy, et al.
Pageof 1