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Nicole Weisschuh

Showing results (51-60 of 89) with videos related to

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European Journal of Human Genetics : EJHG|January 13, 2011
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaLorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, et al.
European Journal of Human Genetics : EJHG|April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesNicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Journal of Medical Genetics|January 29, 2022
<i>DNAJC30</i> disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophySinja Kieninger, Ting Xiao, Nicole Weisschuh, et al.
Scientific Reports|May 8, 2024
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypesJan-Philipp Bodenbender, Valerio Marino, Julia Philipp, et al.
Human Molecular Genetics|April 23, 2021
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defectSusanne Kohl, Pablo Llavona, Alexandra Sauer, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
European Journal of Human Genetics : EJHG|August 17, 2017
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 geneAnna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
Cellular and Molecular Life Sciences : CMLS|May 6, 2015
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotypeTimm Schubert, Corinna Gleiser, Peter Heiduschka, et al.
Pageof 9

Showing results (51-60 of 89) with videos related to

Sort By:
Pageof 9
European Journal of Human Genetics : EJHG|January 13, 2011
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucomaLorena Fernández-Martínez, Stef Letteboer, Christian Y Mardin, et al.
European Journal of Human Genetics : EJHG|April 18, 2013
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophiesNicola Glöckle, Susanne Kohl, Julia Mohr, et al.
Journal of Medical Genetics|January 29, 2022
<i>DNAJC30</i> disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophySinja Kieninger, Ting Xiao, Nicole Weisschuh, et al.
Scientific Reports|May 8, 2024
Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypesJan-Philipp Bodenbender, Valerio Marino, Julia Philipp, et al.
Human Molecular Genetics|April 23, 2021
A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defectSusanne Kohl, Pablo Llavona, Alexandra Sauer, et al.
Human Mutation|October 28, 2014
An augmented ABCA4 screen targeting noncoding regions reveals a deep intronic founder variant in Belgian Stargardt patientsMiriam Bauwens, Julie De Zaeytijd, Nicole Weisschuh, et al.
European Journal of Human Genetics : EJHG|September 3, 2010
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndromeMandy Krumbiegel, Francesca Pasutto, Ursula Schlötzer-Schrehardt, et al.
European Journal of Human Genetics : EJHG|August 17, 2017
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 geneAnna Skorczyk-Werner, Wei-Chieh Chiang, Anna Wawrocka, et al.
International Journal of Molecular Sciences|March 6, 2021
Clinical Phenotype of <i>PDE6B</i>-Associated Retinitis PigmentosaLaura Kuehlewein, Ditta Zobor, Katarina Stingl, et al.
Cellular and Molecular Life Sciences : CMLS|May 6, 2015
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotypeTimm Schubert, Corinna Gleiser, Peter Heiduschka, et al.
Pageof 9