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  1. Perne, Claudia; Peters, Sophia; Cartolano, Maria; Horpaopan, Sukanya; Grimm, Christina; Altmüller, Janine; Sommer, Anna K.; Hillmer, Axel M.; Thiele, Holger; Odenthal, Margarete; Möslein, Gabriela; Adam, Ronja; Sivalingam, Sugirthan; Kirfel, Jutta; Schweiger, Michal R.; Peifer, Martin; Spier, Isabel; Aretz, Stefan

    Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis

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    Public Library of Science (PLoS), 2021

    Published in: PLOS ONE

  2. Hillmer, Axel M.; Flaquer, Antonia; Hanneken, Sandra; Eigelshoven, Sibylle; Kortüm, Anne-Katrin; Brockschmidt, Felix F.; Golla, Astrid; Metzen, Christine; Thiele, Holger; Kolberg, Susanne; Reinartz, Roman; Betz, Regina C.; Ruzicka, Thomas; Hennies, Hans Christian; Kruse, Roland; Nöthen, Markus M.

    Genome-wide Scan and Fine-Mapping Linkage Study of Androgenetic Alopecia Reveals a Locus on Chromosome 3q26

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    Elsevier BV, 2008

    Published in: The American Journal of Human Genetics

  3. Gordon, Christopher T; Xue, Shifeng; Yigit, Gökhan; Filali, Hicham; Chen, Kelan; Rosin, Nadine; Yoshiura, Koh-ichiro; Oufadem, Myriam; Beck, Tamara J; McGowan, Ruth; Magee, Alex C; Altmüller, Janine; Dion, Camille; Thiele, Holger; Gurzau, Alexandra D; Nürnberg, Peter; Meschede, Dieter; Mühlbauer, Wolfgang; Okamoto, Nobuhiko; Varghese, Vinod; Irving, Rachel; Sigaudy, Sabine; Williams, Denise; Ahmed, S Faisal; [...]

    De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

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    Springer Science and Business Media LLC, 2017

    Published in: Nature Genetics