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Akiko Shimamura

Showing results (141-150 of 158) with videos related to

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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.
JCI Insight|October 11, 2022
Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicitiesTimothy S Olson, Benjamin F Frost, Jamie L Duke, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, 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.
The Lancet. Haematology|May 2, 2024
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statementMarcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, 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 Advances|February 2, 2026
Allogeneic Hematopoietic Stem Cell Transplantation in ERCC6L2 DiseaseMarja Hakkarainen, Flore Sicre de Fontbrune, Ilse Kaaja, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Blood Cancer Journal|July 15, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiencyLili Kotmayer, Emilia J Kozyra, Guolian Kang, 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.
Pageof 16

Showing results (141-150 of 158) with videos related to

Sort By:
Pageof 16
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.
JCI Insight|October 11, 2022
Pathogenicity and impact of HLA class I alleles in aplastic anemia patients of different ethnicitiesTimothy S Olson, Benjamin F Frost, Jamie L Duke, et al.
NPJ Genomic Medicine|December 2, 2024
Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomesCourtney E French, Nancy C Andrews, Alan H Beggs, 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.
The Lancet. Haematology|May 2, 2024
Diagnosis, treatment, and surveillance of Diamond-Blackfan anaemia syndrome: international consensus statementMarcin W Wlodarski, Adrianna Vlachos, Jason E Farrar, 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 Advances|February 2, 2026
Allogeneic Hematopoietic Stem Cell Transplantation in ERCC6L2 DiseaseMarja Hakkarainen, Flore Sicre de Fontbrune, Ilse Kaaja, et al.
HGG Advances|February 20, 2026
Scaling Genomic Reanalysis to Unlock Diagnoses and Transform Rare Disease CareShira Rockowitz, Wanqing Shao, Courtney French, et al.
Blood Cancer Journal|July 15, 2025
Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiencyLili Kotmayer, Emilia J Kozyra, Guolian Kang, 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.
Pageof 16