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Items where Author is "Filges, Isabel"

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Number of items: 10.

2016

Filges, Isabel. (2016) Umbilical Cord and Placenta. In: Human Malformations and related anomalies. Oxford, pp. 913-936.

2015

Filges, Isabel. (2015) Genomische Untersuchungen bei Anomalien. Leading Opinions Medizin für die Frau. pp. 6-7. Wien.

2014

Al-Kateb, Hussam and Khanna, Geetika and Filges, Isabel and Hauser, Natalie and Grange, Dorothy K. and Shen, Joseph and Smyser, Christopher D. and Kulkarni, Shashikant and Shinawi, Marwan. (2014) Scoliosis and vertebral anomalies: additional abnormal phenotypes associated with chromosome 16p11.2 rearrangement. American journal of medical genetics. Part A, 164A (5). pp. 1118-1126.

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.

Filges, Isabel and Kang, Anjeung and Hench, Jürgen and Wenzel, Friedel and Bruder, Elisabeth and Miny, Peter and Tercanli, Sevgi. (2011) Fetal polydactyly : a study of 24 cases ascertained by prenatal sonography. Journal of ultrasound in medicine, Vol. 30, H. 7. pp. 1021-1029.

Filges, Isabel and Shimojima, Keiko and Okamoto, Nobuhiko and Röthlisberger, Benno and Weber, Peter and Huber, Andreas R. and Nishizawa, Tsutomu and Datta, Alexandre N. and Miny, Peter and Yamamoto, Toshiyuki. (2011) Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome. Journal of medical genetics, Vol. 48, H. 2. pp. 117-122.

Filges, Isabel and Kang, Anjeung and Klug, Vanessa and Wenzel, Friedel and Heinimann, Karl and Tercanli, Sevgi and Miny, Peter. (2011) aCGH on chorionic villi mirrors the complexity of fetoplacental mosaicism in prenatal diagnosis. Prenatal diagnosis, Vol. 31, H. 5. pp. 473-478.

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.

Vogler, Christian and Gschwind, Leo and Röthlisberger, Benno and Huber, Andreas and Filges, Isabel and Miny, Peter and Auschra, Bianca and Stetak, Attila and Demougin, Philippe and Vukojevic, Vanja and Kolassa, Iris-Tatjana and Elbert, Thomas and de Quervain, Dominique J.-F. and Papassotiropoulos, Andreas. (2010) Microarray-based maps of copy-number variant regions in European and sub-saharan populations. PLoS ONE, 5 (12). e15246.

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.

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