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Human Mutation|July 3, 2010
Clinical variability and novel mutations in the NHEJ1 gene in patients with a Nijmegen breakage syndrome-like phenotypeVéronique Dutrannoy, Ilja Demuth, Ulrich Baumann, et al.Nature Genetics|July 16, 2002
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly)Katrin Hoffmann, Christine K Dreger, Ada L Olins, et al.Nucleus (Austin, Tex.)|February 18, 2011
Mutations causing Greenberg dysplasia but not Pelger anomaly uncouple enzymatic from structural functions of a nuclear membrane proteinPeter Clayton, Björn Fischer, Anuska Mann, et al.Plos One|December 10, 2016
The Slavic NBN Founder Mutation: A Role for Reproductive Fitness?Eva Seemanova, Raymonda Varon, Jan Vejvalka, et al.Plos One|February 20, 2010
Establishment of a mouse model with misregulated chromosome condensation due to defective Mcph1 functionMarc Trimborn, Mahdi Ghani, Diego J Walther, et al.Neurogenetics|October 4, 2011
New mutations in the ATM gene and clinical data of 25 AT patientsIlja Demuth, Véronique Dutrannoy, Wilson Marques, et al.Pageof 7