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American Journal of Medical Genetics. Part A|November 11, 2003
Clinical, cytogenetic, and molecular observations in a patient with Pallister-Killian-syndrome with an unusual karyotypeBarbara Leube, Frank Majewski, Jürgen Gebauer, et al.
Clinical Dysmorphology|October 18, 2003
Unbalanced cryptic translocation der(14)t(9;14)(q34.3;q32.33) identified by subtelomeric FISHBarbara Leube, Frank Majewski, Matthias Drechsler, et al.
Pediatric Nephrology (Berlin, Germany)|September 19, 2013
Synergistic mutations in SLC3A1 and SLC7A9 leading to heterogeneous cystinuria phenotypes: pitfalls in the diagnostic workupSebastian Kummer, Andreas Venghaus, Andrea Schlune, et al.
Neurogenetics|November 18, 2006
Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystoniaDaniela Steinberger, Jutta Trübenbach, Birgit Zirn, et al.
American Journal of Medical Genetics. Part A|March 16, 2013
Evaluation of chromosome 11p imbalances in aniridia and Wilms tumor patientsMaike Busch, Barbara Leube, Anne Thiel, et al.
Genetic Testing|April 1, 2008
Ulna/height ratio as clinical parameter separating EXT1 from EXT2 families?Barbara Leube, Karin Hardt, Sebastian Portier, et al.
Parkinsonism & Related Disorders|October 28, 2011
Are Dopa-responsive dystonia and Parkinson's disease related disorders? A case reportCarsten Eggers, Alexander E Volk, Deniz Kahraman, et al.
Journal of Orthopaedic Research : Official Publication of the Orthopaedic Research Society|August 7, 2007
Clinical outcome and genotype in patients with hereditary multiple exostosesMarcus Jäger, Bettina Westhoff, Sebastian Portier, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|November 2, 2012
DYT7 gene locus for cervical dystonia on chromosome 18p is questionablePia Winter, Christoph Kamm, Saskia Biskup, et al.
Plos One|May 24, 2016
Establishment of a Conditionally Immortalized Wilms Tumor Cell Line with a Homozygous WT1 Deletion within a Heterozygous 11p13 Deletion and UPD Limited to 11p15Artur Brandt, Katharina Löhers, Manfred Beier, et al.
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