Alrun Hotz

Alrun Hotz

UNVERIFIED PROFILE

Are you Alrun Hotz?   Register this Author

Register author
Alrun Hotz

Alrun Hotz

Publications by authors named "Alrun Hotz"

Are you Alrun Hotz?   Register this Author

7Publications

175Reads

37Profile Views

Mutation update for CYP4F22 variants associated with autosomal recessive congenital ichthyosis.

Hum Mutat 2018 10 7;39(10):1305-1313. Epub 2018 Aug 7.

Faculty of Medicine, Institute of Human Genetics, University Medical Center Freiburg, University of Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23594DOI Listing
October 2018

Spectrum of Autosomal Recessive Congenital Ichthyosis in Scandinavia: Clinical Characteristics and Novel and Recurrent Mutations in 132 Patients.

Acta Derm Venereol 2016 Nov;96(7):932-937

Department of Immunology, Genetics and Pathology, Clinical Genetics, University Hospital, Uppsala University, SE-751 85 Uppsala, Sweden.

View Article

Download full-text PDF

Source
https://www.medicaljournals.se/acta/content/abstract/10.2340
Publisher Site
http://dx.doi.org/10.2340/00015555-2418DOI Listing
November 2016

Microdeletion 5q14.3 and anomalies of brain development.

Am J Med Genet A 2013 Sep 4;161A(9):2124-33. Epub 2013 Jul 4.

Institute of Human Genetics, Albert-Ludwigs University Medical Centre Freiburg, Freiburg, Germany.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.36020DOI Listing
September 2013