Concepedia
Statistics
Publications
6
Citations
305
H-Index
Active since
2013
Affiliations
Karolinska Institutet(Current)
Karolinska University Hospital
Tokyo Metropolitan Children's Medical Center
Helsinki University Hospital
Folkhälsans Forskningscentrum
Stefan Geiberger is an author at Karolinska Institutet specializing in genetics, genetic disorders, and human genetics.
Publications per year
2013–2015
FAM111A Mutations Result in Hypoparathyroidism and Impaired Skeletal Development
Sheila Unger, Maria W. Górna, Antony Le Béchec et al. · The American Journal of Human Genetics · 2013 · 138 citations · Full text
Medicine, Endocrinology, Genetics +13
Different mutations in <i>PDE4D</i> associated with developmental disorders with mirror phenotypes
Anna Lindstrand, Giedré Grigelioniené, Daniel Nilsson et al. · Journal of Medical Genetics · 2013 · 66 citations
Life Sciences, Genetics, Molecular Genetics +17
A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach–Nishimura skeletal dysplasia due to pathogenic variants in ALG9
Emma Tham, Erik A. Eklund, Anna Hammarsjö et al. · European Journal of Human Genetics · 2015 · 39 citations
Clinical and Radiographic Features of the Autosomal Recessive form of Brachyolmia Caused by<i>PAPSS2</i>Mutations
Aritoshi Iida, Pelin Özlem Şimşek‐Kiper, Shuji Mizumoto et al. · Human Mutation · 2013 · 36 citations
<i><scp>SLC26A2</scp></i> disease spectrum in Sweden – high frequency of recessive multiple epiphyseal dysplasia (<scp>rMED</scp>)
Outi Mäkitie, Stefan Geiberger, Eva Horemuzova et al. · Clinical Genetics · 2014 · 15 citations
Life Sciences, Genetics, Molecular Genetics +10
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