Items where Author is "Boesch, Nemya"

2011

Filges, Isabel and Kunz, Christophe and Miny, Peter and Boesch, Nemya and Szinnai, Gabor and Wenzel, Friedel and Tschudin, Sibil and Zumsteg, Urs and Heinimann, Karl. (2011) A novel missense mutation in the high mobility group domain of SRY drastically reduces its DNA-binding capacity and causes paternally transmitted 46,XY complete gonadal dysgenesis. Fertility and sterility, 96 (4). pp. 851-855.

Ferrarini, Alessandra and Auteri-Kaczmarek, Agnes and Pica, Alessia and Boesch, Nemya and Heinimann, Karl and Schäfer, Stephan C. and Vesnaver-Megalo, Sara and Cina, Viviane and Beckmann, Jacques S. and Monnerat, Christian. (2011) Early occurrence of lung adenocarcinoma and breast cancer after radiotherapy of a chest wall sarcoma in a patient with a de novo germline mutation in TP53. Familial cancer, Vol. 10, H. 2. pp. 187-192.

2010

Filges, Isabel and Röthlisberger, Benno and Boesch, Nemya and Weber, Peter and Wenzel, Friedel and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2010) Interstitial deletion 1q42 in a patient with agenesis of corpus callosum : Phenotype-genotype comparison to the 1q41q42 microdeletion suggests a contiguous 1q4 syndrome. American journal of medical genetics. Part A, Vol. 152, H. 4. pp. 987-993.

Itin, Peter H. and Heinimann, Karl and Attenhofer, Michèle and Boesch, Nemya and De Lorenzo, Rosaria and Trüb, Swantje and Burger, Bettina. (2010) Precalcaneal congenital fibrolipomatous hamartomas: is there a pathogenetic relationship with Gardner Syndrome? European journal of dermatology : EJD, 20 (2). pp. 246-247.

2009

Filges, Isabel and Röthlisberger, Benno and Noppen, Christoph and Boesch, Nemya and Wenzel, Friedel and Necker, Judith and Binkert, Franz and Huber, Andreas R. and Heinimann, Karl and Miny, Peter. (2009) Familial 14.5 Mb interstitial deletion 13q21.1-13q21.33 : clinical and array-CGH study of a benign phenotype in a three-generation family. American journal of medical genetics, Vol. 149. pp. 237-241.