Gudrun Nurnberg

Wilhelm Stahl Allee 2
Dummerstorf, MV 18196, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 80 publications

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.

A novel MAP3K20 mutation causing centronuclear myopathy-6 with fiber-type disproportion in a Pakistani family.

Journal: Journal of human genetics

Published: May 10, 2022

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4.

Journal: Human genetics

Published: February 11, 2022

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

Author Correction: Mutations in PYCR1 cause cutis laxa with progeroid features.

Journal: Nature genetics

Published: January 22, 2022

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: May 13, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: July 24, 2020

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.

Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss.

Journal: Clinical genetics

Published: January 15, 2020

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

SSBP1 mutations in dominant optic atrophy with variable retinal degeneration.

Journal: Annals of neurology

Published: December 06, 2018

Rapid Communication: Ranking dairy cows for methane emissions measured using respiration chamber or GreenFeed techniques during early, peak, and late lactation.

Rapid Communication: Ranking dairy cows for methane emissions measured using respiration chamber or GreenFeed techniques during early, peak, and late lactation.

Journal: Journal of animal science

Published: July 21, 2017

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

A TUBB6 mutation is associated with autosomal dominant non-progressive congenital facial palsy, bilateral ptosis and velopharyngeal dysfunction.

Journal: Human molecular genetics

Published: May 25, 2017

Short communication: Estimating lactation curves for highly inhomogeneous milk yield data of an F2 population (Charolais × German Holstein).

Short communication: Estimating lactation curves for highly inhomogeneous milk yield data of an F2 population (Charolais × German Holstein).

Journal: Journal of dairy science

Published: February 21, 2017

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.

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

Published: December 17, 2016

Dysfunction of the MDM2/p53 axis is linked to premature aging.

Dysfunction of the MDM2/p53 axis is linked to premature aging.

Journal: The Journal of clinical investigation

Published: December 08, 2016

Showing 1-12 of 80

Last Updated: 09/26/2026