S. Geiberger

发表

SLC26A2 disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (rMED)

O. Mäkitie, A. Nordgren, E. Moström, 2015, Clinical genetics.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, N. Elçioglu, H. Ohashi, 2013, Human mutation.

Autosomal dominant brachyolmia in a large Swedish family: Phenotypic spectrum and natural course

O. Mäkitie, A. Nordgren, E. Moström, 2014, American journal of medical genetics. Part A.

The phenotype range of achondrogenesis 1A

O. Mäkitie, A. Nordgren, G. Nishimura, 2013, American journal of medical genetics. Part A.

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes

O. Mäkitie, A. Nordgren, D. Nilsson, 2013, Journal of Medical Genetics.

FAM111A mutations result in hypoparathyroidism and impaired skeletal development.

Brian J. Stevenson, G. Superti-Furga, S. Pradervand, 2013, American journal of human genetics.

A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9

A. Nordgren, E. Eklund, D. Nilsson, 2015, European Journal of Human Genetics.

Autosomal recessive mutations in the COL2A1 gene cause severe spondyloepiphyseal dysplasia

O. Mäkitie, A. Nordgren, D. Nilsson, 2015, Clinical Genetics.

Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by PAPSS2 Mutations

H. Kayserili, H. Ohashi, S. Ikegawa, 2013, Human mutation.