Anna Collin (Former)
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- 2010
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Mark
Fusion of the FUS and CREB3L2 genes in a supernumerary ring chromosome in low-grade fibromyxoid sarcoma.
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- Contribution to journal › Article
- 2009
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Mark
Clinical Variability of Waardenburg-Shah Syndrome in Patients With Proximal 13q Deletion Syndrome Including the Endothelin-B Receptor Locus
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- Contribution to journal › Article
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Mark
False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite probe (D18Z1) to chromosome 2.
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- Contribution to journal › Article
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Mark
Expression levels of HMGA2 in adipocytic tumors correlate with morphologic and cytogenetic subgroups.
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- Contribution to journal › Article
- 2008
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Mark
Array-based genotype-phenotype correlation in a case of supernumerary ring chromosome 12
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- Contribution to journal › Article
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Mark
Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.
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- Contribution to journal › Article
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Mark
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.
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- Contribution to journal › Article
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Mark
The POU5F1P1 pseudogene encodes a putative protein similar to POU5F1 isoform 1.
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- Contribution to journal › Article
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Mark
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
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- Contribution to journal › Article
- 2007
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Mark
Assessment of the clinical and molecular impact of different cytogenetic subgroups in a series of 272 lipomas with abnormal karyotype
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- Contribution to journal › Article