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Yutaka Furuta

Showing results (21-30 of 31) with videos related to

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Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare recordsRory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A|October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemiaYutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantKimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
Molecular Genetics and Metabolism Reports|October 22, 2024
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
Public Health Genomics|May 21, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn ScreeningYutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Public Health Genomics|February 17, 2026
Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024Yutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Neurogenetics|August 11, 2025
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 geneB Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.
Genes, Chromosomes & Cancer|April 18, 2018
Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosisKazuki Terada, Hiroki Yamaguchi, Toshimitsu Ueki, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone SupplementationYutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
Pageof 4

Showing results (21-30 of 31) with videos related to

Sort By:
Pageof 4
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 9, 2026
Evaluating Pregnancy and Neonatal Outcomes in Mothers with Genetic Disease using electronic healthcare recordsRory J Tinker, Lucas D Richter, Yutaka Furuta, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic VariantsYutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
American Journal of Medical Genetics. Part A|October 28, 2023
Probable digenic inheritance of Diamond-Blackfan anemiaYutaka Furuta, Rory J Tinker, Alican Gulsevin, et al.
American Journal of Medical Genetics. Part A|March 21, 2024
Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variantKimberly M Ezell, Rory J Tinker, Yutaka Furuta, et al.
Molecular Genetics and Metabolism Reports|October 22, 2024
Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive conditionKimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
Public Health Genomics|May 21, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn ScreeningYutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Public Health Genomics|February 17, 2026
Sex-Specific Diagnostic Inequality in Fabry Disease: Lessons Learned from Analysis of Newborn Screening and Cascade Testing in Tennessee from 2017 to 2024Yutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Neurogenetics|August 11, 2025
First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 geneB Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.
Genes, Chromosomes & Cancer|April 18, 2018
Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosisKazuki Terada, Hiroki Yamaguchi, Toshimitsu Ueki, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone SupplementationYutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
Pageof 4