Christoph Friedburg

Giessen, HE, Germany

Last Updated: 09/26/2026

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Found 21 publications

10 years of screening for retinopathy of prematurity (2009-2019) : Results analysis of two German level-1 neonatal intensive care units (NICUs) with university on-site screening and a telemedical approach in the non-university NICU

10 years of screening for retinopathy of prematurity (2009-2019) : Results analysis of two German level-1 neonatal intensive care units (NICUs) with university on-site screening and a telemedical approach in the non-university NICU

Journal: Die Ophthalmologie

Published: December 20, 2022

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.

Journal: Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society

Published: September 29, 2020

Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?

Chorioretinal atrophy in pediatric cerebral folate deficiency-a preventable disease?

Journal: Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft

Published: July 08, 2020

The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations

The Phenotypic Spectrum of Ophthalmic Changes in CEP290 Mutations

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 22, 2019

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.

Journal: Human mutation

Published: January 09, 2019

Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance

Overview of Congenital Stationary Night Blindness with Predominantly Normal Fundus Appearance

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: February 02, 2018

Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity.

Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity.

Journal: BioMed research international

Published: October 03, 2017

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Journal: American journal of medical genetics. Part A

Published: August 18, 2017

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Journal: Human molecular genetics

Published: April 03, 2017

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome.

Journal: American journal of medical genetics. Part A

Published: November 23, 2015

Correlation of central visual function and ROP risk factors in prematures with and without acute ROP at the age of 6-13 years: the Giessen long-term ROP study.

Correlation of central visual function and ROP risk factors in prematures with and without acute ROP at the age of 6-13 years: the Giessen long-term ROP study.

Journal: The British journal of ophthalmology

Published: September 18, 2015

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.

Journal: Human molecular genetics

Published: October 29, 2013

Showing 1-12 of 21

Last Updated: 09/26/2026