Stefan Geiberger
Stockholm, AB, Sweden
Last Updated: 09/26/2026
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Found 8 publications
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.
Journal: European journal of human genetics : EJHG
Published: November 29, 2014
Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia.
Journal: Clinical genetics
Published: June 29, 2014
SLC26A2 disease spectrum in Sweden - high frequency of recessive multiple epiphyseal dysplasia (rMED).
Journal: Clinical genetics
Published: January 26, 2014
Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.
Journal: American journal of medical genetics. Part A
Published: November 25, 2013
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.
Journal: Journal of medical genetics
Published: November 09, 2013
The phenotype range of achondrogenesis 1A.
Journal: American journal of medical genetics. Part A
Published: May 11, 2013
FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Journal: American journal of human genetics
Published: March 03, 2013
Showing 1-8 of 8
Last Updated: 09/26/2026