Peter C. van den Akker
www.rug.nl
0000-0002-3734-753X
University of Dundee
48 papers found
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The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen
The molecular skin pathology of familial primary localized cutaneous amyloidosis
WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations.
Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism
Somatic Mosaicism for the SALL1 mutation p.Ser371X in full-blown Townes-Brocks Syndrome with Duane Anomaly
Design and validation of a conformation-sensitive capillary electrophoresis system for mutation identification of the COL7A1 gene with automated peak comparison.
Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.
Pretibial dystrophic epidermolysis bullosa akin to bullous lichen planus,Pretibiale dystrofische epidermolysis bullosa lijkend op bulleuze lichen planus
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