Mann med stort hode, lærevansker og multiple basalcellekarsinomer
Charlotte von der Lippe(Telemark Hospital), Åse Bratland(Oslo University Hospital), Cecilie F. Rustad(University of Oslo), Selma Mujezinović Larsen(Oslo University Hospital), Hilde Nordgarden(Unknown), Ingrid Roscher(OsloMet – Oslo Metropolitan University), Even Mjøen(OsloMet – Oslo Metropolitan University)
Cited by 0
Related Papers
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders
|Journal of Allergy and Clinical Immunology|2016|282
PGM3 Mutations Cause a Congenital Disorder of Glycosylation with Severe Immunodeficiency and Skeletal Dysplasia
|The American Journal of Human Genetics|2014|183
Frequency of SMARCB1 mutations in familial and sporadic schwannomatosis
|Neurogenetics|2012|119