Auflistung nach Autor "Kohl, Susanne"

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A 73,128 bp de novo deletion encompassing the OPN1LW/OPN1MW gene cluster in sporadic Blue Cone Monochromacy : a case report

Buena Atienza, Elena; Nasser, Fadi; Kohl, Susanne; Wissinger, Bernd (2018)
A case of X-linked retinoschisis with atypical fundus appearance

Nasser, Fadi; Kohl, Susanne; Kühlewein, Laura; Wissinger, Bernd; Kurtenbach, Anne; Zrenner, Eberhart (2019)
A deep intronic substitution in CNGB3 is one of the major causes of achromatopsia among Jewish patients

Weisschuh, Nicole; Kohl, Susanne (2021)
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect

Kohl, Susanne; Sauer, Alexandra; Reuter, Peggy; Weisschuh, Nicole; Kempf, Melanie; Sliesoraityte, Ieva; Zrenner, Eberhart; Wissinger, Bernd; Llavona Juez, Pablo; Dehmelt, Florian A.; Arrenberg, Aristides; Kühlewein, Laura (2021)
A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

Kohl, Susanne; Schaich, Simone; Brennenstuhl, Christina; Wissinger, Bernd; Bolz, Sylvia; Lukowski, Robert (2012)
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Weisschuh, Nicole; Kohl, Susanne; Wissinger, Bernd; Sadler, Françoise (2019)
Accessory heterozygous mutations in cone photoreceptor CNGA3 exacerbate CNG channel-associated retinopathy

Burkard, Markus; Kohl, Susanne; Tanimoto, Naoyuki; Brennenstuhl, Christina; Bausch, Anne E.; Junger, Katrin; Reuter, Peggy; Sothilingam, Vithiyanjali; Beck, Susanne C.; Huber, Gesine; Baumann, Britta; Weisschuh, Nicole; Zobor, Ditta; Hahn, Gesa-Astrid; Venturelli, Sascha; Lukowski, Robert; Wissinger, Bernd; Ruth, Peter; Krätzig, Timm; Mayer, Anja Kathrin; Seeliger, Wolfgang Mathias (2018)
Achromatopsia mutations target sequential steps of ATF6 activation

Wissinger, Bernd; Kohl, Susanne (2017)
Achromatopsia-Rod Monochromacy

Kohl, Susanne (2012)
Achromatopsia: On the Doorstep of a Possible Therapy

Zobor, Ditta; Zobor, Gergely; Kohl, Susanne (2015)
Allelic Expression Imbalance in the Human Retinal Transcriptome and Potential Impact on Inherited Retinal Diseases

Schimpf-Linzenbold, Simone; Thaler, Sebastian; Kohl, Susanne; Wissinger, Bernd; Llavona Juez, Pablo; Yörük, Efdal (2017)
An Augmented ABCA4 Screen Targeting Noncoding Regions Reveals a Deep Intronic Founder Variant in Belgian Stargardt Patients

Weisschuh, Nicole; Kohl, Susanne (2015)
An early nonsense mutation facilitates the expression of a short isoform of CNGA3 by alternative translation initiation

Kohl, Susanne; Wissinger, Bernd; Reuter, Peggy; Täger, Joachim (2018)
An early onset cone dystrophy due to CEP290 mutation: a case report

Kohl, Susanne; Grasshoff, Ute; Stingl, Katarina; Schäferhoff, Karin (2023)
An innovative strategy for the molecular diagnosis of Usher syndrome identifies causal biallelic mutations in 93% of European patients

Kohl, Susanne; Kurtenbach, Anne; Sliesoraityte, Ieva; Zobor, Ditta; Zrenner, Eberhart (2016)
Ataluren for the Treatment of Usher Syndrome 2A Caused by Nonsense Mutations

Štingl, Katarína; Kohl, Susanne (2019)
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene

Weisschuh, Nicole; Wissinger, Bernd; Kohl, Susanne (2017)
BBS1 Mutations in a Wide Spectrum of Phenotypes Ranging From Nonsyndromic Retinitis Pigmentosa to Bardet-Biedl Syndrome

Kohl, Susanne; Wissinger, Bernd; Sliesoraityte, Ieva; Zrenner, Eberhart (2012)
Biallelic variants in coenzyme Q10 biosynthesis pathway genes cause a retinitis pigmentosa phenotype

Zuleger, Theresia; Stingl, Katarina; Kohl, Susanne; Pohl, Lisa Katharina; Haack, Tobias (2022)
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy

Bodenbender, Jan-Philipp; Bethge, Leon; Kohl, Susanne; Weisschuh, Nicole; Štingl, Katarína; Haack, Tobias; Kühlewein, Laura (2023)

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Auflistung nach Autor "Kohl, Susanne"

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