Lara G. Stuhn

Tuebingen, BW, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 16 publications

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.

Novel genetic and nerve imaging characterization of Charcot-Marie-Tooth disease type 4F.

Journal: Neurogenetics

Published: November 08, 2025

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Long-Read Sequencing Identifies Mosaic Sequence Variations in Friedreich's Ataxia-GAA Repeats.

Journal: International journal of molecular sciences

Published: April 10, 2025

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Journal: American journal of medical genetics. Part A

Published: June 02, 2024

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.

An Atypical Mild Phenotype of Autosomal Recessive RPE65-Associated Retinitis Pigmentosa.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 20, 2024

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Clinical, Neuroimaging, and Metabolic Footprint of the Neurodevelopmental Disorder Caused by Monoallelic HK1 Variants.

Journal: Neurology. Genetics

Published: November 20, 2023

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Journal: HGG advances

Published: November 08, 2023

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Journal: medRxiv : the preprint server for health sciences

Published: October 09, 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

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Hemizygous variants in protein phosphatase 1 regulatory subunit 3F (PPP1R3F) are associated with a neurodevelopmental disorder characterized by developmental delay, intellectual disability and autistic features.

Journal: Human molecular genetics

Published: May 12, 2023

Episignature analysis of moderate effects and mosaics.

Episignature analysis of moderate effects and mosaics.

Journal: European journal of human genetics : EJHG

Published: January 30, 2023

Programming protein phase-separation employing a modular library of intrinsically disordered precision block copolymer-like proteins creating dynamic cytoplasmatic compartmentalization.

Programming protein phase-separation employing a modular library of intrinsically disordered precision block copolymer-like proteins creating dynamic cytoplasmatic compartmentalization.

Journal: Biomaterials

Published: September 21, 2022

Dynamic Structural Changes and Thermodynamics in Phase Separation Processes of an Intrinsically Disordered-Ordered Protein Model.

Dynamic Structural Changes and Thermodynamics in Phase Separation Processes of an Intrinsically Disordered-Ordered Protein Model.

Journal: Angewandte Chemie (International ed. in English)

Published: September 18, 2021

Showing 1-12 of 16

Last Updated: 09/26/2026