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American Journal of Medical Genetics. Part A|August 31, 2010
Wiedemann-Steiner syndrome: three further casesRainer Koenig, Peter Meinecke, Alma Kuechler, et al.
Human Mutation|March 17, 2004
Rapid detection of subtelomeric deletion/duplication by novel real-time quantitative PCR using SYBR-green dyeDetlef Boehm, Sabine Herold, Alma Kuechler, et al.
Molecular and Cellular Probes|July 18, 2015
Exome sequencing identifies a novel heterozygous TGFB3 mutation in a disorder overlapping with Marfan and Loeys-Dietz syndromeAlma Kuechler, Janine Altmüller, Peter Nürnberg, et al.
Journal of Neurology|March 3, 2010
Female carriers of X-chromosomal adrenoleukodystrophy: a major differential diagnosis in progressive myelopathyAnne-Katrin Guettsches, Alma Kuechler, Andreas Gal, et al.
Strahlentherapie Und Onkologie : Organ Der Deutschen Rontgengesellschaft ... [Et Al]|May 6, 2004
Impact of various parameters in detecting chromosomal aberrations by FISH to describe radiosensitivityUlrike Keller, Alma Kuechler, Thomas Liehr, et al.
Frontiers in Genetics|October 16, 2018
Genetic Diagnostic Elucidation of a Patient With Multiorgan Granulomas, Facial Peculiarities, and Psychomotor RetardationDaniel Soukup, Alma Kuechler, Joachim Roesler, et al.
Cancer Genetics and Cytogenetics|January 29, 2005
Cytogenetic instability in young patients with multiple primary cancersUlrike Keller, Gerhard Grabenbauer, Alma Kuechler, et al.
The Annals of Otology, Rhinology, and Laryngology|July 7, 2017
Cochlear Implantation in Siblings With Refsum's DiseaseKerstin Stähr, Alma Kuechler, Martin Gencik, et al.
European Journal of Medical Genetics|June 12, 2021
A homozygous nonsense mutation early in exon 5 of BRCA2 is associated with very severe Fanconi anemiaIvana Radulovic, Alma Kuechler, Michael M Schündeln, et al.
Strahlentherapie Und Onkologie : Organ Der Deutschen Rontgengesellschaft ... [Et Al]|June 4, 2002
Is 24-color FISH detection of in-vitro radiation-induced chromosomal aberrations suited to determine individual intrinsic radiosensitivity?Alma Kuechler, Susann Neubauer, Gerhard G Grabenbauer, et al.
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