Nicola Glockle
Tuebingen, BW, Germany
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Journal: Journal of neurochemistry
Published: May 07, 2017
FUNDUS ALBIPUNCTATUS ASSOCIATED WITH CONE DYSFUNCTION.
Journal: Retinal cases & brief reports
Published: September 15, 2016
Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.
Journal: PloS one
Published: September 09, 2015
Genotype-phenotype correlation in patients with PRPH2-mutations
Journal: Klinische Monatsblatter fur Augenheilkunde
Published: March 25, 2015
Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone-rod dystrophy by pseudoexon activation.
Journal: European journal of human genetics : EJHG
Published: March 18, 2015
Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.
Journal: Acta ophthalmologica
Published: May 28, 2014
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Journal: European journal of human genetics : EJHG
Published: November 12, 2012
Lack of sequence variations in THAP1 gene and THAP1-binding sites in TOR1A promoter of DYT1 patients.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: December 12, 2011
Generation of a novel rodent model for DYT1 dystonia.
Journal: Neurobiology of disease
Published: November 28, 2011
Showing 1-10 of 10
Last Updated: 09/26/2026