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Human Molecular Genetics
|
October 24, 2015
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
Adam P DeLuca, S Scott Whitmore, Jenna Barnes, et al.
The Annals of Otology, Rhinology, and Laryngology
|
November 5, 2015
Audioprofile Surfaces: The 21st Century Audiogram
Kyle R Taylor, Kevin T Booth, Hela Azaiez, et al.
Journal of Medical Genetics
|
June 28, 2013
Advancing genetic testing for deafness with genomic technology
A Eliot Shearer, E Ann Black-Ziegelbein, Michael S Hildebrand, et al.
Ophthalmology
|
October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
BMC Genomics
|
June 27, 2021
Exome-based investigation of the genetic basis of human pigmentary glaucoma
Carly van der Heide, Wes Goar, Kacie J Meyer, et al.
Ophthalmology
|
February 3, 2024
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
Beau J Fenner, S Scott Whitmore, Adam P DeLuca, et al.
Human Mutation
|
April 27, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
Michael S Hildebrand, Matías Morín, Nicole C Meyer, et al.
Genome Biology
|
March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A Brownstein, Alan H Beggs, Nils Homer, et al.
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of 4
Search research articles
Search
Showing results (31-40 of 38) with videos related to
Sort By:
Page
of 4
You have reached the last page of results.
This site can display upto 38 results.
Human Molecular Genetics
|
October 24, 2015
Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis
Adam P DeLuca, S Scott Whitmore, Jenna Barnes, et al.
The Annals of Otology, Rhinology, and Laryngology
|
November 5, 2015
Audioprofile Surfaces: The 21st Century Audiogram
Kyle R Taylor, Kevin T Booth, Hela Azaiez, et al.
Journal of Medical Genetics
|
June 28, 2013
Advancing genetic testing for deafness with genomic technology
A Eliot Shearer, E Ann Black-Ziegelbein, Michael S Hildebrand, et al.
Ophthalmology
|
October 29, 2015
North Carolina Macular Dystrophy Is Caused by Dysregulation of the Retinal Transcription Factor PRDM13
Kent W Small, Adam P DeLuca, S Scott Whitmore, et al.
BMC Genomics
|
June 27, 2021
Exome-based investigation of the genetic basis of human pigmentary glaucoma
Carly van der Heide, Wes Goar, Kacie J Meyer, et al.
Ophthalmology
|
February 3, 2024
A Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease
Beau J Fenner, S Scott Whitmore, Adam P DeLuca, et al.
Human Mutation
|
April 27, 2011
DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss
Michael S Hildebrand, Matías Morín, Nicole C Meyer, et al.
Genome Biology
|
March 27, 2014
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge
Catherine A Brownstein, Alan H Beggs, Nils Homer, et al.
Page
of 4