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JCI Insight
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April 10, 2020
Multiexon deletion alleles of ATF6 linked to achromatopsia
Eun-Jin Lee, Wei-Chieh Jerry Chiang, Heike Kroeger, et al.
Human Mutation
|
March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
Katherine V Towns, Athina Kipioti, Vernon Long, et al.
JAMA Ophthalmology
|
March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
Rachel L Taylor, Gavin Arno, James A Poulter, et al.
Investigative Ophthalmology & Visual Science
|
June 7, 2017
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
Kamron N Khan, Mohammed E El-Asrag, Cristy A Ku, et al.
American Journal of Human Genetics
|
February 10, 2009
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
David A Parry, Alan J Mighell, Walid El-Sayed, et al.
Journal of the Endocrine Society
|
December 22, 2017
Homozygous Resistance to Thyroid Hormone <i>β</i>: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
Carla Moran, Abdelhadi M Habeb, George J Kahaly, et al.
Human Molecular Genetics
|
September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
Malena Daich Varela, James Bellingham, Fabiana Motta, et al.
Journal of Medical Genetics
|
November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, et al.
Plos One
|
December 15, 2015
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, et al.
American Journal of Ophthalmology
|
April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
Anna Majander, Neringa Jurkute, Florence Burté, et al.
Page
of 28
Search research articles
Search
Showing results (241-250 of 277) with videos related to
Sort By:
Page
of 28
JCI Insight
|
April 10, 2020
Multiexon deletion alleles of ATF6 linked to achromatopsia
Eun-Jin Lee, Wei-Chieh Jerry Chiang, Heike Kroeger, et al.
Human Mutation
|
March 17, 2010
Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes
Katherine V Towns, Athina Kipioti, Vernon Long, et al.
JAMA Ophthalmology
|
March 3, 2017
Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy
Rachel L Taylor, Gavin Arno, James A Poulter, et al.
Investigative Ophthalmology & Visual Science
|
June 7, 2017
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy
Kamron N Khan, Mohammed E El-Asrag, Cristy A Ku, et al.
American Journal of Human Genetics
|
February 10, 2009
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
David A Parry, Alan J Mighell, Walid El-Sayed, et al.
Journal of the Endocrine Society
|
December 22, 2017
Homozygous Resistance to Thyroid Hormone <i>β</i>: Can Combined Antithyroid Drug and Triiodothyroacetic Acid Treatment Prevent Cardiac Failure?
Carla Moran, Abdelhadi M Habeb, George J Kahaly, et al.
Human Molecular Genetics
|
September 9, 2022
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies
Malena Daich Varela, James Bellingham, Fabiana Motta, et al.
Journal of Medical Genetics
|
November 9, 2013
Combined exome and whole-genome sequencing identifies mutations in ARMC4 as a cause of primary ciliary dyskinesia with defects in the outer dynein arm
Alexandros Onoufriadis, Amelia Shoemark, Mustafa M Munye, et al.
Plos One
|
December 15, 2015
Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
Hendrik P N Scholl, Anthony T Moore, Robert K Koenekoop, et al.
American Journal of Ophthalmology
|
April 26, 2022
WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression
Anna Majander, Neringa Jurkute, Florence Burté, et al.
Page
of 28