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Nicole Weisschuh

Showing results (21-30 of 89) with videos related to

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ACS Chemical Neuroscience|April 17, 2020
Neuronal Calcium Sensor GCAP1 Encoded by <i>GUCA1A</i> Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis PigmentosaSeher Abbas, Valerio Marino, Nicole Weisschuh, et al.
Acta Ophthalmologica|November 29, 2014
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 geneStephanie Hipp, Gergely Zobor, Nicola Glöckle, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAnja K Mayer, Klaus Rohrschneider, Tim M Strom, et al.
International Journal of Molecular Sciences|January 20, 2021
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, et al.
Case Reports in Medicine|March 27, 2010
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 MutationSimone Dressler, Philipp Meyer-Marcotty, Nicole Weisschuh, et al.
Acta Ophthalmologica|December 2, 2017
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 geneFadi Nasser, Nicole Weisschuh, Pietro Maffei, et al.
BMC Medical Genetics|April 10, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reportsKatja Kloth, Matthis Synofzik, Christoph Kernstock, et al.
Plos One|December 22, 2018
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisNicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, et al.
Molecular Vision|October 27, 2021
A deep intronic substitution in <i>CNGB3</i> is one of the major causes of achromatopsia among Jewish patientsHamzah Aweidah, Manar Salameh, Claudia Yahalom, et al.
Molecular Genetics & Genomic Medicine|December 8, 2022
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotypeClaudia S Priglinger, Günter Rudolph, Irene Schmid, et al.
Pageof 9

Showing results (21-30 of 89) with videos related to

Sort By:
Pageof 9
ACS Chemical Neuroscience|April 17, 2020
Neuronal Calcium Sensor GCAP1 Encoded by <i>GUCA1A</i> Exhibits Heterogeneous Functional Properties in Two Cases of Retinitis PigmentosaSeher Abbas, Valerio Marino, Nicole Weisschuh, et al.
Acta Ophthalmologica|November 29, 2014
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 geneStephanie Hipp, Gergely Zobor, Nicola Glöckle, et al.
European Journal of Human Genetics : EJHG|July 9, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activationAnja K Mayer, Klaus Rohrschneider, Tim M Strom, et al.
International Journal of Molecular Sciences|January 20, 2021
X-Linked Retinitis Pigmentosa Caused by Non-Canonical Splice Site Variants in <i>RPGR</i>Friederike Kortüm, Sinja Kieninger, Pascale Mazzola, et al.
Case Reports in Medicine|March 27, 2010
Dental and Craniofacial Anomalies Associated with Axenfeld-Rieger Syndrome with PITX2 MutationSimone Dressler, Philipp Meyer-Marcotty, Nicole Weisschuh, et al.
Acta Ophthalmologica|December 2, 2017
Ophthalmic features of cone-rod dystrophy caused by pathogenic variants in the ALMS1 geneFadi Nasser, Nicole Weisschuh, Pietro Maffei, et al.
BMC Medical Genetics|April 10, 2019
Novel likely pathogenic variants in TMEM126A identified in non-syndromic autosomal recessive optic atrophy: two case reportsKatja Kloth, Matthis Synofzik, Christoph Kernstock, et al.
Plos One|December 22, 2018
Molecular and clinical analysis of 27 German patients with Leber congenital amaurosisNicole Weisschuh, Britta Feldhaus, Muhammad Imran Khan, et al.
Molecular Vision|October 27, 2021
A deep intronic substitution in <i>CNGB3</i> is one of the major causes of achromatopsia among Jewish patientsHamzah Aweidah, Manar Salameh, Claudia Yahalom, et al.
Molecular Genetics & Genomic Medicine|December 8, 2022
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotypeClaudia S Priglinger, Günter Rudolph, Irene Schmid, et al.
Pageof 9