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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 condition
Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, 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 2024
Yutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Public Health Genomics
|
May 21, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening
Yutaka 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 gene
B Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment
I J J Muffels, K A Kantautas, G MacDonald, et al.
Archives of Virology
|
January 19, 2021
Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern Brazil
Rory J Tinker, Antonio Charlys da Costa, Roozbeh Tahmasebi, et al.
Annals of the American Thoracic Society
|
July 12, 2024
Effectiveness and Safety of an Emergency Department Code Sepsis Protocol: A Pragmatic Clinical Trial
Ithan D Peltan, Joseph R Bledsoe, Jason R Jacobs, et al.
Viruses
|
May 8, 2020
Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil
Roozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, et al.
The Journal of General Virology
|
October 12, 2020
Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformatics
Roozbeh Tahmasebi, Adriana Luchs, Kaelan Tardy, et al.
Scientific Reports
|
December 11, 2019
First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil
Ulisses Alves Rosa, Geovani de Oliveira Ribeiro, Fabiola Villanova, et al.
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Search research articles
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Showing results (111-120 of 124) with videos related to
Sort By:
Page
of 13
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 condition
Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, 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 2024
Yutaka Furuta, Neena S Agrawal, Natalie N Owen, et al.
Public Health Genomics
|
May 21, 2026
Sex-Based Disparities in Fabry Disease Cause Challenges in Newborn Screening
Yutaka 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 gene
B Lakshitha A Perera, Russell Stewart, Yutaka Furuta, et al.
Medrxiv : the Preprint Server for Health Sciences
|
June 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment
I J J Muffels, K A Kantautas, G MacDonald, et al.
Archives of Virology
|
January 19, 2021
Norovirus strains in patients with acute gastroenteritis in rural and low-income urban areas in northern Brazil
Rory J Tinker, Antonio Charlys da Costa, Roozbeh Tahmasebi, et al.
Annals of the American Thoracic Society
|
July 12, 2024
Effectiveness and Safety of an Emergency Department Code Sepsis Protocol: A Pragmatic Clinical Trial
Ithan D Peltan, Joseph R Bledsoe, Jason R Jacobs, et al.
Viruses
|
May 8, 2020
Genomic Analyses of Potential Novel Recombinant Human Adenovirus C in Brazil
Roozbeh Tahmasebi, Antonio Charlys da Costa, Kaelan Tardy, et al.
The Journal of General Virology
|
October 12, 2020
Viral gastroenteritis in Tocantins, Brazil: characterizing the diversity of human adenovirus F through next-generation sequencing and bioinformatics
Roozbeh Tahmasebi, Adriana Luchs, Kaelan Tardy, et al.
Scientific Reports
|
December 11, 2019
First identification of mammalian orthoreovirus type 3 by gut virome analysis in diarrheic child in Brazil
Ulisses Alves Rosa, Geovani de Oliveira Ribeiro, Fabiola Villanova, et al.
Page
of 13