Nicole Weisschuh

15PUBLICATIONS
17CO-AUTHORS
Gene expression (incl. microarray and other genome-wide approaches)German languageNeurology and neuromuscular diseasesGenomicsPhotochemistry
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Publications (15)

|Apr 24, 2025
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.

Lasse Wolfram, David A Merle, Laura Kühlewein

|May 27, 2023
Genetic and Clinical Profile of Retinopathies Due to Disease-Causing Variants in Leber Congenital Amaurosis (LCA)-Associated Genes in a Large German Cohort.

Ditta Zobor, Britta Brühwiler, Eberhart Zrenner

|Feb 11, 2023
Biallelic Variants in TULP1 Are Associated with Heterogeneous Phenotypes of Retinal Dystrophy.

Jan-Philipp Bodenbender, Valerio Marino, Leon Bethge

|Dec 08, 2022
Characterization of a novel non-canonical splice site variant (c.886-5T>A) in NBAS and description of the associated phenotype.

Claudia S Priglinger, Günter Rudolph, Irene Schmid

|Jul 27, 2022
Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort.

Fadi Nasser, Susanne Kohl, Anne Kurtenbach

|Mar 25, 2022
Molecular Properties of Human Guanylate Cyclase-Activating Protein 3 (GCAP3) and Its Possible Association with Retinitis Pigmentosa.

Anna Avesani, Laura Bielefeld, Nicole Weisschuh

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