University of Münster
CRIS@UM
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Dr. Axel Henry Bohring

Current affiliations

  • Institute of Human Genetics

Publications

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Bruel A., Bigoni S., Kennedy J., Whiteford M., Buxton C., Parmeggiani G., Wherlock M., Woodward G., Greenslade M., Williams M., St-Onge J., Ferlini A., Garani G., Ballardini E., Van Bon B., Acuna-Hidalgo R., Bohring A., Deleuze J., Boland A., Meyer V., Olaso R., Ginglinger E., Study D., Rivière J., Brunner H., Hoischen A., Newbury-Ecob R., Faivre L., Thauvin-Robinet C., Thevenon J. (2017)
In: Journal of Medical Genetics, 54(12), 830-835. doi:10.1136/jmedgenet-2017-104748
Research article (journal) | Peer reviewed | Published
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype
Wade E., Jenkins Z., Daniel P., Morgan T., Addor M., Adés L., Bertola D., Bohring A., Carter E., Cho T., de Geus C., Duba H., Fletcher E., Hadzsiev K., Hennekam R., Kim C., Krakow D., Morava E., Neuhann T., Sillence D., Superti-Furga A., Veenstra-Knol H., Wieczorek D., Wilson L., Markie D., Robertson S. (2017)
In: American Journal of Medical Genetics Part A, 173A(7), 1739-1746. doi:10.1002/ajmg.a.38267
Research article (journal) | Peer reviewed | Published
A presentation of ichthyosis with severe atopy due to STS and FLG deficiency
Seller N, Bohring A, Hausser I, Steinfeld R, Walker T, Aufenvenne K, Metze D, Luger T, Traupe H, Oji V (2010)
In: Journal der Deutschen Dermatologischen Gesellschaft, 8(11).
Research article (journal) | Published
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1.
Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D (2010)
In: American Journal of Medical Genetics Part A, 152A(5), 1213-1224.
Research article (journal) | Published
The face of Noonan syndrome: Does phenotype predict genotype.
Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M (2010)
In: American Journal of Medical Genetics Part A, 152A(8), 1960-1966.
Research article (journal) | Published
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Doctorates

Die Identifizierung und Charakterisierung eines neuen Fehlbildungssyndroms als eigenständige phänotypische Entität
Candidate: Bohring, Axel | Supervisors: Horst, Jürgen
Period of time: until 30/08/2006
Doctoral examination procedure finished at: Doctoral examination procedure at University of Münster