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Molecular Cytogenetics|July 2, 2009
Clinically abnormal case with paternally derived partial trisomy 8p23.3 to 8p12 including maternal isodisomy of 8p23.3: a case reportDilek Aktas, Anja Weise, Eda Utine, et al.
Molecular Cytogenetics|June 1, 2010
Derivative chromosome 1 and GLUT1 deficiency syndrome in a sibling pairDilek Aktas, Eda G Utine, Kristin Mrasek, et al.
American Journal of Human Genetics|April 6, 2010
Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfectaYasemin Alanay, Hrispima Avaygan, Natalia Camacho, et al.
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