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Acta Neuropathologica|December 14, 2006
Extradural ependymal tumor with myxopapillary and ependymoblastic differentiation in a case of Schinzel-Giedion syndromeRudi Beschorner, Manfred Wehrmann, Ulrike Ernemann, et al.
Bioinformatics (Oxford, England)|April 17, 2013
UPDtool: a tool for detection of iso- and heterodisomy in parent-child trios using SNP microarraysChristopher Schroeder, Marc Sturm, Andreas Dufke, et al.
American Journal of Medical Genetics. Part A|May 29, 2012
Interstitial 9q34.11-q34.13 deletion in a patient with severe intellectual disability, hydrocephalus, and cleft lip/palateAndreas Tzschach, Ute Grasshoff, Karin Schäferhoff, et al.
Journal of Medical Genetics|July 31, 2012
Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literatureMatthias Begemann, Sabrina Spengler, Magdalena Gogiel, et al.
American Journal of Medical Genetics|September 20, 2002
Molecular breakpoint analysis and relevance of variable mosaicism in a woman with short stature, primary amenorrhea, unilateral gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotypeDieter Kotzot, Andreas Dufke, Andreas Tzschach, et al.
American Journal of Medical Genetics. Part A|August 18, 2020
Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literatureWisam Habhab, Ulrike Mau-Holzmann, Sylke Singer, et al.
Molecular Syndromology|October 12, 2019
Novel HIVEP2 Variants in Patients with Intellectual DisabilityJoohyun Park, Roberto Colombo, Karin Schäferhoff, et al.
American Journal of Medical Genetics. Part A|January 29, 2011
Intragenic deletions of IL1RAPL1: Report of two cases and review of the literatureAnne Behnecke, Katrin Hinderhofer, Oliver Bartsch, et al.
Prenatal Diagnosis|June 25, 2026
Prenatal Genetic Testing for Beckwith-Wiedemann Syndrome: Considerations, Challenges and Observations (A Real-World Study)Melissa Connolly, Louise McClelland, Pierpaola Tannorella, et al.
The Journal of Histochemistry and Cytochemistry : Official Journal of the Histochemistry Society|June 28, 2007
Three unusual but cytogenetically similar cases with up to five different cell lines involving structural and numerical abnormalities of chromosome 18Isabel M Carreira, Alexandra Mascarenhas, Eunice Matoso, et al.
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