"Paetau A" - Selaus tekijän mukaan Kansanterveyslaitos KTL
Viitteet 1-9 / 9
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A distinct phenotype of distal myopathy in a large Finnish family.
Neurology : 1 (2003) -
Aikuisiässä alkavan ataksian uusia perinnöllisiä syitä
Duodecim (2007) -
Expression of KIT Receptor Tyrosine Kinase in Endothelial Cells of Juvenile Brain Tumors
BRAIN PATHOL (2010) -
Hydrolethalus syndrome: neuropathology of 21 cases confirmed by HYLS1 gene mutation analysis
J NEUROPATHOL EXP NEUROL (2008) -
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice
Proc Natl Acad Sci U S A : 49 (2005) -
The gene disrupted in Marinesco-Sjogren syndrome encodes SIL1, an HSPA5 cochaperone
Nat Genet : 12 (2005)
