Christoph J. Kernstock

Elfriede Aulhorn Str. 7
Tuebingen, BW 72076, Germany

Last Updated: 09/26/2026

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Found 25 publications

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Comprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.

Journal: Scientific reports

Published: September 27, 2023

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Diagnostic genome sequencing improves diagnostic yield: a prospective single-centre study in 1000 patients with inherited eye diseases.

Journal: Journal of medical genetics

Published: June 20, 2023

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.

Journal: Movement disorders clinical practice

Published: October 04, 2021

CT Assessment of Intraorbital Cable Movement of Electronic Subretinal Prosthesis in Three Different Surgical Approaches.

CT Assessment of Intraorbital Cable Movement of Electronic Subretinal Prosthesis in Three Different Surgical Approaches.

Journal: Translational vision science & technology

Published: July 15, 2021

Unilateral Retinal Ischemia.

Unilateral Retinal Ischemia.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 18, 2021

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families.

Journal: Journal of neuromuscular diseases

Published: May 24, 2020

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.

Journal: Parkinsonism & related disorders

Published: October 10, 2019

Optic Disc Drusen

Optic Disc Drusen

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: August 16, 2019

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

ARSACS as a Worldwide Disease: Novel SACS Mutations Identified in a Consanguineous Family from the Remote Tribal Jammu and Kashmir Region in India.

Journal: Cerebellum (London, England)

Published: April 10, 2019

Unilateral ocular malingering - a new test for the assessment of visual acuity.

Unilateral ocular malingering - a new test for the assessment of visual acuity.

Journal: Acta ophthalmologica

Published: February 15, 2019

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Full-field electroretinography, visual acuity and visual fields in Usher syndrome: a multicentre European study.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: January 24, 2019

"Experience Medicine" Between Science and Occultism - a Controversy About Iridology 1925 - 1950

"Experience Medicine" Between Science and Occultism - a Controversy About Iridology 1925 - 1950

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: January 23, 2019

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Last Updated: 09/26/2026