American Journal of Human Genetics 2007 Reinhard Ullmann - Abstracts
American Journal of Human Genetics 2007 Reinhard Ullmann | |||||
Title | Subject | Authors | |||
---|---|---|---|---|---|
A defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2)is associated with autosomal recessive mental retardation.(Clinical report) | Biological sciences | Dietmar Schmitz, Reinhard Ullmann, Mohammad Mahdi Motazacker, Hans Hilger Ropers, Hossein Najmabadi, Andreas Walter Kuss, Andreas Tzchach, Lars Riff Jensen, Saeid Hosseini Amini, Chandan Goswami, Kimia Kahrizi, Sedigheh Seyedeh Abedini, Sahar Esmaeeli Nieh, Benjamin Rainer Rost, Tim Hucho, Masoud Garshasbi | |||
Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome. | Biological sciences | Hans-Hilger Ropers, Andre Megarbane, Stefan Mundlos, Eva Klopocki, Harald Schulze, Gabriele Straub, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A. Newbury-Ecob, Luigard M. Neumann, Rolf Habenicht, Rainer Konig, Eva Seemanova, Reinhard Ullmann, Denise Horn | |||
Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.(Report) | Biological sciences | Evan E. Eichler, Niels Tommerup, Christine Bellanne-Chantelot, Dan Pinkel, Mario Ventura, Reinhard Ullmann, Heather C. Mefford, Severine Clauin, Andrew J. Sharp, Rikke S. Moller, Raj Kapur, Gregory M. Cooper, H. Hilger Ropers |
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