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Orphanet Journal of Rare Diseases
|
November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
Yutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
American Journal of Ophthalmology
|
August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Rory J Tinker, Logan M Smith, Lisa A Bastarache, 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 variant
Kimberly M Ezell, Rory J Tinker, 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 Variants
Yutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
BMC Medical Genomics
|
January 6, 2026
Defining an approach to empower clinical geneticists to do genomic reanalysis
Michael M Segal, Meriel McEntagart, Alexander T Deng, 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 condition
Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
Brain Communications
|
December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease
Abdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, 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.
American Journal of Medical Genetics. Part A
|
August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism
Russell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
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Search research articles
Search
Showing results (1-10 of 14) with videos related to
Sort By:
Page
of 2
Orphanet Journal of Rare Diseases
|
November 15, 2024
A review of multiple diagnostic approaches in the undiagnosed diseases network to identify inherited metabolic diseases
Yutaka Furuta, Rory J Tinker, Rizwan Hamid, et al.
American Journal of Ophthalmology
|
August 8, 2025
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas
Rory J Tinker, Logan M Smith, Lisa A Bastarache, 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 variant
Kimberly M Ezell, Rory J Tinker, 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 Variants
Yutaka Furuta, Lynette C Rives, T Andrew Burrow, et al.
BMC Medical Genomics
|
January 6, 2026
Defining an approach to empower clinical geneticists to do genomic reanalysis
Michael M Segal, Meriel McEntagart, Alexander T Deng, 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 condition
Kimberly M Ezell, Yutaka Furuta, Devin Oglesbee, et al.
Brain Communications
|
December 11, 2023
Novel variant in <i>CADM3</i> causes Charcot-Marie-Tooth disease
Abdoulaye Yalcouyé, Adriana P Rebelo, Lassana Cissé, 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.
American Journal of Medical Genetics. Part A
|
August 21, 2025
Case Series of Nizon-Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid-Triploid Mosaicism
Russell Stewart, Kimberly M Ezell, Deanna S Bell, et al.
Medrxiv : the Preprint Server for Health Sciences
|
September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorder
Daniel Greene, Rodrigo Mendez, Jon Lees, et al.
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of 2