Axel Bohring

Muenster, NW, Germany

Last Updated: 09/26/2026

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Found 11 publications

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Recurrent de novo variants in the spliceosomal factor CRNKL1 are associated with severe microcephaly and pontocerebellar hypoplasia with seizures.

Journal: American journal of human genetics

Published: February 11, 2025

ANKRD11 variants: KBG syndrome and beyond.

ANKRD11 variants: KBG syndrome and beyond.

Journal: Clinical genetics

Published: March 26, 2021

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.

Journal: Biomolecules

Published: December 21, 2020

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype.

Journal: Journal of medical genetics

Published: April 19, 2017

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype.

Journal: American journal of medical genetics. Part A

Published: January 22, 2017

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.

Molecular Analysis of Hybrid Neurofibroma/Schwannoma Identifies Common Monosomy 22 and α-T-Catenin/CTNNA3 as a Novel Candidate Tumor Suppressor.

Journal: The American journal of pathology

Published: May 01, 2016

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

Journal: American journal of human genetics

Published: March 16, 2016

47 patients with FLNA associated periventricular nodular heterotopia.

47 patients with FLNA associated periventricular nodular heterotopia.

Journal: Orphanet journal of rare diseases

Published: June 24, 2015

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics.

Journal: BMJ open

Published: March 21, 2013

Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients.

Hybrid neurofibroma/schwannoma is overrepresented among schwannomatosis and neurofibromatosis patients.

Journal: The American journal of surgical pathology

Published: March 27, 2012

The male phenotype in osteopathia striata congenita with cranial sclerosis.

The male phenotype in osteopathia striata congenita with cranial sclerosis.

Journal: American journal of medical genetics. Part A

Published: November 02, 2011

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Last Updated: 09/26/2026