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Klinische Monatsblatter Fur Augenheilkunde
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November 21, 2018
[Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies]
Bernd Wissinger
Molecular Vision
|
April 18, 2012
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia
Nicole Weisschuh, Bernd Wissinger, Eugen Gramer
Ophthalmic Genetics
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August 21, 2002
Clinical features of achromatopsia in Swedish patients with defined genotypes
Louise Eksandh, Susanne Kohl, Bernd Wissinger
BMC Genomics
|
February 9, 2007
Mapping of transcription start sites of human retina expressed genes
Valeria Roni, Ronald Carpio, Bernd Wissinger
Human Genetics
|
December 3, 2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
Simone Schimpf, Simone Schaich, Bernd Wissinger
Progress in Retinal and Eye Research
|
June 20, 2020
Splicing mutations in inherited retinal diseases
Nicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger
Molecular Vision
|
February 8, 2012
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
Nicole Weisschuh, Sabine Aisenbrey, Bernd Wissinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2023
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia
Maria Solaki, Bernd Wissinger, Susanne Kohl, et al.
Molecular Vision
|
June 15, 2007
Variations in the WDR36 gene in German patients with normal tension glaucoma
Nicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
American Journal of Ophthalmology
|
February 7, 2009
A clinical and molecular genetic study of German patients with primary congenital glaucoma
Nicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
Page
of 20
Search research articles
Search
Showing results (1-10 of 196) with videos related to
Sort By:
Page
of 20
Klinische Monatsblatter Fur Augenheilkunde
|
November 21, 2018
[Genetic Causes and Genetic Diagnostic Testing of Inherited Optic Atrophies]
Bernd Wissinger
Molecular Vision
|
April 18, 2012
A splice site mutation in the PAX6 gene which induces exon skipping causes autosomal dominant inherited aniridia
Nicole Weisschuh, Bernd Wissinger, Eugen Gramer
Ophthalmic Genetics
|
August 21, 2002
Clinical features of achromatopsia in Swedish patients with defined genotypes
Louise Eksandh, Susanne Kohl, Bernd Wissinger
BMC Genomics
|
February 9, 2007
Mapping of transcription start sites of human retina expressed genes
Valeria Roni, Ronald Carpio, Bernd Wissinger
Human Genetics
|
December 3, 2005
Activation of cryptic splice sites is a frequent splicing defect mechanism caused by mutations in exon and intron sequences of the OPA1 gene
Simone Schimpf, Simone Schaich, Bernd Wissinger
Progress in Retinal and Eye Research
|
June 20, 2020
Splicing mutations in inherited retinal diseases
Nicole Weisschuh, Elena Buena-Atienza, Bernd Wissinger
Molecular Vision
|
February 8, 2012
Identification of a novel CRYBB2 missense mutation causing congenital autosomal dominant cataract
Nicole Weisschuh, Sabine Aisenbrey, Bernd Wissinger, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 10, 2023
Functional evaluation allows ACMG/AMP-based re-classification of CNGA3 variants associated with achromatopsia
Maria Solaki, Bernd Wissinger, Susanne Kohl, et al.
Molecular Vision
|
June 15, 2007
Variations in the WDR36 gene in German patients with normal tension glaucoma
Nicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
American Journal of Ophthalmology
|
February 7, 2009
A clinical and molecular genetic study of German patients with primary congenital glaucoma
Nicole Weisschuh, Christiane Wolf, Bernd Wissinger, et al.
Page
of 20