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Molecular and Cellular Probes|December 6, 2008
Detecting copy number variations in autosomal recessive limb-girdle muscular dystrophies using a multiplex ligation-dependent probe amplification (MLPA) assayVerena Wildförster, Gabriele Dekomien
Molecular Vision|November 26, 2002
The canine Recoverin (RCV1) gene: a candidate gene for generalized progressive retinal atrophyGabriele Dekomien, Jörg Thomas Epplen
Genetics, Selection, Evolution : GSE|August 21, 2003
Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogsGabriele Dekomien, Joerg T Epplen
BMC Genetics|July 19, 2002
Screening of the arrestin gene in dogs afflicted with generalized progressive retinal atrophyGabriele Dekomien, Jörg Thomas Epplen
Molecular Vision|November 25, 2003
Evaluation of the canine RPE65 gene in affected dogs with generalized progressive retinal atrophyGabriele Dekomien, Jörg Thomas Epplen
Molecular Vision|July 2, 2002
The canine Phosducin gene: characterization of the exon-intron structure and exclusion as a candidate gene for generalized progressive retinal atrophy in 11 dog breedsGabriele Dekomien, Jörg Thomas Epplen
Molecular and Cellular Probes|December 30, 2015
Mutational analysis of the CYP7B1, PNPLA6 and C19orf12 genes in autosomal recessive hereditary spastic paraplegiaSarah F Schubert, Sabine Hoffjan, Gabriele Dekomien
Molecular and Cellular Probes|September 27, 2012
Integrated multiplex ligation dependent probe amplification (MLPA) assays for the detection of alterations in the HEXB, GM2A and SMARCAL1 genes to support the diagnosis of Morbus Sandhoff, M. Tay-Sachs variant AB and Schimke immuno-osseous dysplasia in humansAnna K U Sobek, Christina Evers, Gabriele Dekomien
Journal of Negative Results in Biomedicine|December 1, 2006
Indirect exclusion of four candidate genes for generalized progressive retinal atrophy in several breeds of dogsTanja Lippmann, Sandra M Pasternack, Britta Kraczyk, et al.
Molecular and Cellular Probes|January 22, 2016
WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literatureSabine Hoffjan, Aysegül Ibisler, Anne Tschentscher, et al.
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