anna [dot] collin [at] med [dot] lu [dot] se
Publikationer (hämtat ur Lunds universitets publikationsdatabas)
- Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus
- Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups.
- False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2.
- Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
- Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
- Delection of the SCN gene cluster on 2q24.4 is associated with severe epilepsy an array-based genotype-phenotype correlation and a comprehensive review of previously published area
- Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases.
- The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1.