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Muscle & Nerve|November 22, 2012
Novel FHL1 mutation in a family with reducing body myopathyTobias Schreckenbach, Wolfram Henn, Wolfram Kress, et al.Human Genetics|December 13, 2005
Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variantsConstanze Pagenstecher, Maria Wehner, Waltraut Friedl, et al.International Journal of Oncology|January 13, 2005
Interstitial loss and gain of sequences on chromosome 22 in meningiomas with normal karyotypeAlexandra Prowald, Silke Wemmert, Claudia Biehl, et al.International Journal of Cancer|November 13, 2008
Genome wide expression profiling identifies specific deregulated pathways in meningiomaAndreas Keller, Nicole Ludwig, Christina Backes, et al.European Journal of Human Genetics : EJHG|September 14, 2007
Homozygous PMS2 germline mutations in two families with early-onset haematological malignancy, brain tumours, HNPCC-associated tumours, and signs of neurofibromatosis type 1Stefan Krüger, Miriam Kinzel, Constanze Walldorf, et al.European Journal of Human Genetics : EJHG|December 4, 2002
Homologous sequences at human chromosome 9 bands p12 and q13-21.1 are involved in different patterns of pericentric rearrangementsHeike Starke, Jörg Seidel, Wolfram Henn, et al.Investigative Ophthalmology & Visual Science|October 27, 2007
Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophyJayne S Weiss, Howard S Kruth, Helena Kuivaniemi, et al.Oncotarget|December 25, 2014
New insights into the genetics of glioblastoma multiforme by familial exome sequencingChristina Backes, Christian Harz, Ulrike Fischer, et al.Human Genetics|March 23, 2004
Fine mapping of the Schnyder's crystalline corneal dystrophy locusVeena Theendakara, Gerard Tromp, Helena Kuivaniemi, et al.European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.Pageof 4