Publications by authors named "Stephanie Spranger"

17Publications

The clinical-phenotype continuum in DYNC1H1-related disorders-genomic profiling and proposal for a novel classification.

J Hum Genet 2020 Nov 12;65(11):1003-1017. Epub 2020 Aug 12.

Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, Center for Molecular Medicine Cologne (CMMC), Center for Rare Diseases, University of Cologne, Cologne, Germany.

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http://dx.doi.org/10.1038/s10038-020-0803-1DOI Listing
November 2020

Interstitial deletion on chromosome 5q33.3q35.1 in a 6-year-old girl -- neuropsychological findings and follow-up in an extremely rare chromosomal aberration.

Child Neuropsychol 2003 Jun;9(2):129-41

Department of Clinical Child Neuropsychology, University of Bremen, Bremen, Germany.

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http://dx.doi.org/10.1076/chin.9.2.129.14502DOI Listing
June 2003