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Mark D Fleming

Showing results (201-210 of 215) with videos related to

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Haematologica|July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
Blood|October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.
Cancer Discovery|September 5, 2014
The genomic landscape of pediatric Ewing sarcomaBrian D Crompton, Chip Stewart, Amaro Taylor-Weiner, et al.
Med (New York, N.Y.)|March 5, 2021
Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and InfectionJoe N Frost, Tiong Kit Tan, Munawar Abbas, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, 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.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Blood|September 1, 2021
Association of unbalanced translocation der(1;7) with germline GATA2 mutationsEmilia J Kozyra, Gudrun Göhring, Dennis D Hickstein, et al.
Nature Communications|February 27, 2021
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndromeAlyssa L Kennedy, Kasiani C Myers, James Bowman, et al.
The Journal of Clinical Investigation|October 4, 2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like featuresRaphael Carapito, Martina Konantz, Catherine Paillard, et al.
Pageof 22

Showing results (201-210 of 215) with videos related to

Sort By:
Pageof 22
Haematologica|July 21, 2018
The phenotypic spectrum of germline <i>YARS2</i> variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2Lisa G Riley, Matthew M Heeney, Joëlle Rudinger-Thirion, et al.
Blood|October 23, 2015
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9Klaus Schmitz-Abe, Szymon J Ciesielski, Paul J Schmidt, et al.
Cancer Discovery|September 5, 2014
The genomic landscape of pediatric Ewing sarcomaBrian D Crompton, Chip Stewart, Amaro Taylor-Weiner, et al.
Med (New York, N.Y.)|March 5, 2021
Hepcidin-Mediated Hypoferremia Disrupts Immune Responses to Vaccination and InfectionJoe N Frost, Tiong Kit Tan, Munawar Abbas, et al.
Medrxiv : the Preprint Server for Health Sciences|January 7, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, 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.
HGG Advances|April 17, 2025
Mitochondrial DNA variant detection in over 6,500 rare disease families by the systematic analysis of exome and genome sequencing data resolves undiagnosed casesSarah L Stenton, Kristen Laricchia, Nicole J Lake, et al.
Blood|September 1, 2021
Association of unbalanced translocation der(1;7) with germline GATA2 mutationsEmilia J Kozyra, Gudrun Göhring, Dennis D Hickstein, et al.
Nature Communications|February 27, 2021
Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndromeAlyssa L Kennedy, Kasiani C Myers, James Bowman, et al.
The Journal of Clinical Investigation|October 4, 2017
Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like featuresRaphael Carapito, Martina Konantz, Catherine Paillard, et al.
Pageof 22