Julia Mohr

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 9 publications

Novel variants in the SOX11 gene: clinical description of seven new patients.

Novel variants in the SOX11 gene: clinical description of seven new patients.

Journal: European journal of human genetics : EJHG

Published: December 01, 2023

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Clinical, neuroradiological, and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: February 05, 2023

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.

Journal: American journal of human genetics

Published: February 25, 2020

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

SOD1 deficiency: a novel syndrome distinct from amyotrophic lateral sclerosis.

Journal: Brain : a journal of neurology

Published: January 18, 2019

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif.

Journal: Human mutation

Published: September 05, 2017

Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.

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

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Phenotype variations of retinal dystrophies caused by mutations in the RLBP1 gene.

Journal: Acta ophthalmologica

Published: May 28, 2014

A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.

A case of cohesinopathy with a novel de-novo SMC1A splice site mutation.

Journal: Clinical dysmorphology

Published: July 19, 2013

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

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

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Last Updated: 09/26/2026