Nuria C. Bramswig

Muenster, NW, Germany

Last Updated: 09/26/2026

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Found 36 publications

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Author Correction: Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: May 18, 2026

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences

Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics

Published: September 02, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes.

Journal: Nature genetics

Published: August 18, 2025

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.

Life Beyond Childhood: Insight Into the Lived Experience of 91 Adults With KBG Syndrome Through an Online Patient/Caregiver-Reported Co-Produced Questionnaire.

Journal: Brain and behavior

Published: January 22, 2025

Syndromology at the interface of evolving phenotypes, epimutations, and model systems.

Syndromology at the interface of evolving phenotypes, epimutations, and model systems.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: June 10, 2024

Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome.

Adult syndromology: challenges, opportunities and perspectives: Illustrated by the description of four adults with Costello syndrome.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: June 10, 2024

Amelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.

Amelogenesis imperfecta: Analysis of the genetic basis and treatment with a digital workflow: A clinical report.

Journal: The Journal of prosthetic dentistry

Published: May 21, 2024

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Journal: Human genetics

Published: August 28, 2023

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.

Journal: European journal of human genetics : EJHG

Published: February 08, 2023

Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.

Comprehensive neurological evaluation of a cohort of patients with neurofibromatosis type 1 from a single institution.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: November 07, 2022

Showing 1-12 of 36

Last Updated: 09/26/2026