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American Journal of Medical Genetics. Part A|August 3, 2019
Male infant with paternal uniparental diploidy mosaicism and a 46,XX/46,XY karyotypeIsabel Spier, Hartmut Engels, Sonja Stutte, et al.Human Mutation|October 2, 2004
Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC geneStefan Aretz, Siegfried Uhlhaas, Yuli Sun, et al.Acta Oncologica (Stockholm, Sweden)|July 27, 2007
Nine novel pathogenic germline mutations in MLH1, MSH2, MSH6 and PMS2 in families with Lynch syndromeNils Rahner, Nicolaus Friedrichs, Maria Wehner, et al.International Journal of Cancer|March 25, 2006
MUTYH-associated polyposis: 70 of 71 patients with biallelic mutations present with an attenuated or atypical phenotypeStefan Aretz, Siegfried Uhlhaas, Heike Goergens, et al.The Journal of Molecular Diagnostics : JMD|January 26, 2007
A complex rearrangement in the APC gene uncovered by multiplex ligation-dependent probe amplificationConstanze Pagenstecher, Dorothea Gadzicki, Dietlinde Stienen, et al.Scientific Reports|February 3, 2022
Allele-specific transcription factor binding in a cellular model of orofacial cleftingKatharina L M Ruff, Ronja Hollstein, Julia Fazaal, et al.European Journal of Human Genetics : EJHG|October 31, 2013
Genome-wide analysis of parent-of-origin effects in non-syndromic orofacial cleftsParas Garg, Kerstin U Ludwig, Anne C Böhmer, et al.Ophthalmology|June 17, 2015
Reticular Pseudodrusen in Sorsby Fundus DystrophyMartin Gliem, Philipp L Müller, Elisabeth Mangold, 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.American Journal of Medical Genetics. Part A|April 15, 2008
Compound heterozygosity for two MSH6 mutations in a patient with early onset colorectal cancer, vitiligo and systemic lupus erythematosusNils Rahner, Gerald Höefler, Christoph Högenauer, et al.Pageof 14